The 18th

Japan-Korea-China
Pediatric Nephrology Seminar
2021(Fukuoka, JAPAN)

Date :

25 April, 2021 (Sunday)

OnlineDepartment of Nephrology,
President : Yoshitsugu Kaku Fukuoka Children’s Hospital

Venue :

Welcome Message
Dear Friends and Colleagues,
Welcome to the 18thJapan-Korea-China Pediatric Nephrology Seminar!
This annual international seminar organized by three countries in Northeast Asia has a great history of 19
years by now. Scientific communication, close relationships and warm friendship have been establishedthrough this seminar in pediatric nephrologists of our three countries. This seminar has also become agood stage for young promising doctors to present and discuss the topics of pediatric nephrology in English
under academic but frank and warm atmosphere.
We have been preparing to hold the 18th seminar in Fukuoka in April 2020, however, due to novel
coronavirus disease (COVID-19) pandemic, we have postponed it to April 25, 2021 and decided to hold it
completely on the Net. We were looking forward to having pediatric nephrologists from three countries get
together actually in Fukuoka, the historical port city with a long history with Korea and China, to deepen
their research, erudition and friendships, however, it is sorrowful that we had to hold the seminar totally online to prevent infection.
Nevertheless, we must not stop the progress of medicine and friendship. I wish this seminar will bevaluable and satisfying for all the participants.
Sincerely yours,

Yoshitsugu Kaku, M.D., Ph.D.
Presidentth

The 18 Japan-Korea-China Pediatric Nephrology Seminar
Department of Nephrology
Fukuoka Children’s Hospital
Fukuoka, Japan

Contents
Organizing Committee…………………………………………………………… 3
General Information……………………………………………………………… 4
Guide for Participants…………………………………………………………… 5
Guide for Presenters/Chairs…………………………………………………… 7
Timetable…………………………………………………………………………… 10
Program……………………………………………………………………………… 11
Abstracts
Continuous Professional Development [CPD]……………………………………… 24
Oral Case Conference [O]…………………………………………………………… 28
Poster [P]…………………………………………………………………………… 37

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Information

Organizing Committee

Japan
Rika Fujimaru

Osaka City General Hospital

Motoshi HattoriTokyo Women's Medical University

Ryugo Hiramoto

Matsudo City General Hospital (Liaison officer)

Kazumoto Iijima

Hyogo Prefectural Kobe Children's Hospital

Shuichi Ito

Graduate School of Medicine, Yokohama City University

Shoji Kagami

Tokushima University School of Medicine

Yoshitsugu Kaku

Fukuoka Children's HospitalMichio Nagata

University of Tsukuba Faculty of Medicine

Koichi Nakanishi

Graduate School of Medicine, University of the Ryukyus

Keisuke Sugimoto

Kindai University Faculty of Medicine

Kunimasa Yan

Kyorin University School of Medicine

Korea
Hae Il Cheong

Seoul National University

Min Hyun Cho

Kyungpook National University (Liaison officer)

Il-Soo Ha

Seoul National University

Tae-Sun Ha

Chungbuk National University

Hee Gyung Kang

Seoul National University

Ji Hong Kim

Gangnam Severance Hospital

Kee Hyuck Kim

NHIS Ilsan Hospital

Joo Hoon Lee

Asan Medical Center

Young Seo Park

Asan Medical Center

Kee-Hwan Yoo

Korea University

China
Jie Ding

Peking University First Hospital

Songming Huang

Children's hospital of Nanjing Medical University

Xiaoyun Jiang

The First Affiliated Hospital, Sun Yat-sen University

Qiu LiChildren's Hospital of Chongqing Medical University

Jianhua Mao

The Children Hospital of Zhejiang University School of Medicine

Qian ShenChildren's Hospital of Fudan University

Fang Wang

Peking University First Hospital

Suxia Wang

Peking University First Hospital

Zhengkun Xia

Jinling Hospital, School of Medicine, Nanjing University

Hong Xu

Children's Hospital of Fudan University

Zhuwen Yi

The Second Xiangya Hospital, Central South University

Aihua Zhang

Children's hospital of Nanjing Medical University

Xuhui Zhong

Peking University First Hospital (Liaison officer)

Jianhua Zhou

Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology

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Information

General Information

Congress name: The 18th Japan-Korea-China Pediatric Nephrology Seminar 2021
Date:

25 April, 2021 (Sunday)

Venue: Online system (zoom)▶ Registration:
Advanced registration only
● No onsite registration is available.
▶ Congress Secretariat:
c/o JTB Communication Design, Inc.
Meeting & Convention Business Unit
ADD: 1-1-35-4F, Nagahama, Chuo-ku, Fukuoka 810-0072, JAPAN4

Information

Guide for Participants●

Registration

REGISTRATION FEES
- All payments must be made in Japanese yen.
- 10% consumption tax is included.
Category

Registration Fee

Domestic participation

12,000 JPY

Overseas participation*Free*Even if you are exempted from the registration fee, participants from Korea and China require to
register at the online registration below.

HOW TO JOIN THE PROGRAM
Please make registration for the 18th Japan-Korea-China Pediatric Nephrology Seminar 2021 (18jkcpns). An invitation email ofzoom webinar will be sent to the registrants around April 20.
To avoid excluding the outsiders, we request all attendees to log-in Zoom Webinar in advance. Please findmore information about Zoom Log-in procedure on the seminar website. Please be sure of using email
address and full-name you registered for the 18th Japan-Korea-China Pediatric Nephrology Seminar.
Guide for
After you log-in to the zoom webinar, you will receive approval message with meeting ID, as far as yourParticipants
log-in record is equal to pre-registered one. In case you need to change your e-mail address to receive zoom
invitation, you need to send written request e-mail to the secretariat. It may take some time to get approval on another e-mailinformation, so please try logging in as early as possible.
Non registrant will not be approved. Please complete pre-registration in time. The deadline for pre-registration is April 18th, andthere is no reception on the very days.

Although you can log-in the webinar anytime until the meeting starts, we recommend you do it as early as possible to avoid any
unforeseen troubles.
When a session begins, all participants except for the speakers and chairpersons are muted by host. Attendees can make question
via "raise hand" function. After the talk, the chairpersons will unmute attendee(s) who raised hand.
Please do not use Q&A function.

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Information

IMPORTANT NOTICE
Here below are some important notice on using Zoom. Please read them carefully.
1. Recommend using your work e-mail to register with Zoom
Try not using e-mail addresses belonging to smaller public e-mail providers. Your contact details might happen to be shared witheach member of that domain group.
Some cases had been reported and we are not sure if the glitch is to be fixed by the time of our event. Therefore, to register with
Zoom, we recommend using your work e-mail.
2. Don’t share conference link, ID and password
As you may already know, there are many reports on "zoom bombing", which is disrupting Zoom meetings with offensive content.
The trouble seems to be caused by sharing conference links on social media. To avoid any unexpected way of leaking theinformation, do not forward conference link, ID and password to anybody else.
3. Keep the rules
Before you join the meeting, make sure of following rules to keep smooth organization of the meeting.
➢ Participants are requested to refrain from using the Chat function.
➢ If you have any question, please use “raise hand” function.
➢ Only the host/co-hosts, speakers and chairpersons can share the screen, so that any intruders would be excluded from themeeting if any.
4. Think about your environment
Before you join the meeting, take a moment to consider what people will see or hear when you join the meeting with mic orcamera on.
➢ Even if you’re home alone, they may expect you to be fully dressed. Basic grooming is probably a good idea.
➢ If you are going to share your screen, close any windows which you would not want others to see.
➢ Don't forget to secure the power supply and internet environment.
➢ Using a headset is recommended.

For any inquiries about registration, please contact:
Registration Office of the 18th Japan-Korea-China Pediatric Nephrology Seminar 2021
c/o JTB Communication Design, Inc.
E-MAIL: 18jkcpns-reg@jtbcom.co.jp

6Information

Guide for Presenters/Chairs●

Speakers Guide

The program will consist of 2 patterns of presentation, which are LIVE and Prerecorded sessions. CPD and Oral Sessions will bemainly LIVE and Poster sessions will be organized as prerecorded. LIVE sessions will be broadcasted by Zoom Video Webinar at
specific times on the scheduled dates. Poster sessions will be available as on-demand delivery only. We are also going to arrange
on-demand delivery for CPD and Oral sessions in May for a few weeks as far as approved.
All Speakers are required to make pre-registration for the seminar no later than March 15. All registrants will receive invitation
email via Zoom Webinar and another email with instructions on how to access the program in April. Please sign in Zoom Webinar
as an attendee during the seminar period.
Detailed descriptions on each session are as follows.
SessionTalk Length

Presentation Style

Q&A StyleOn-demand

CPD

15 min. talk & 5 min. Q&A

Live or pre-recorded

Live

Yes

Oral

15 min. talk & 5 min. Q&A

Live or pre-recorded

Live

Yes

Poster5 min.

Pre-recorded

Not applicableYes

For CPD and Oral speakers
・CPD and Oral speakers can make their presentations as live online or can release their pre-recorded video. The presentation
video submitted to the Secretariat until April 14, will be played/shared by organizer in accordance with the timetable.
・All CPD and Oral speakers must standby online during the allocated session time and attend live Q&A session even if eachpresentation is made by the pre-recorded video. They are requested to standby at least 15 minutes before the beginning ofyour session starts. Host (Organizer) will promote chairpersons/speakers to a panelist from attendee.

For Poster speakers
・All poster speakers are requested to upload their presentation video by April 14.

How to create your presentation in PowerPoint :For all CPD, Oral and Poster speakers- Widescreen format, using the 16:9 aspect ratio to utilize the full screen- No restriction on the number of slides, as far as you keep the length specified above.
- Show presentation title, your affiliation and name on the first slide. We recommend inserting your photo on the first page as well.
- Use standard font which is originally installed by OS in order to avoid garbled characters.
- If personal information of patient(s) including video/picture(s) is included in the presentation, it is requested to confirm consent
of the patients/guardians.
- Conflict of interest (COI) should be presented ahead of the presentation.

How to record and upload your presentation :For CPD, Oral speakers who make their presentations by the pre-recorded video
For all Poster speakers
1. Presentation data must be prepared by using PowerPoint with narration in English.
Please find following website for your reference on "Record a slide show with narration and slide timings".
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Information

https://support.office.com/en-us/article/record-a-slide-show-with-narration-and-slide-timings-0b9502c6-5f6c-40ae-b1e7e47d8741161c*Need to have audio narration embedded.
2. The PowerPoint file should be converted to MP4 (.mp4) or MOV (.mov).
- Only mp4 or mov format will be accepted.
- Presentation video files should be no larger than 1 GB.
- Naming your file : Program No._your family name_submission date (MM/DD).mp4e.g.) P-51_Yamada_0401.mp4- Check the video once you recorded and be sure that time length meets the condition. The organizers are exempt from
responsibility for any sound/screen problem, and will stop the video if it overruns the allotted time.
*Reference on "Turn your presentation into a video" (PowerPoint for MS):
https://support.microsoft.com/en-us/office/turn-your-presentation-into-a-video-c140551f-cb37-4818-b5d4-3e30815c3e83*Reference on "Save a presentation as a movie file or MP4" (PowerPoint for Mac):https://support.microsoft.com/en-us/office/save-a-presentation-as-a-movie-file-or-mp4-4e1ebcc1-f46b-47b6-922abac76c4a5691?ui=en-US&rs=en-US&ad=US
3. The presentation file should be uploaded to the submission system.
- Pre-recorded video submission period : from March 15 to April 14, 2021 (JST).
Go to Online Submission ( http://www.jspn.jp/18jkcpns/presenters.html)*The speakers can upload their files as many times as needed before the submission deadline above. The
latest file is available for the presentation.

Important Dates
Deadline
Speakers Registration

March 15

Pre-recorded video Submission

April 14

In case of any difficulties on preparation or uploading,please contact the secretariat at 18jkcpns@jtbcom.co.jp●

Chairs Guide

CPD and Oral Sessions will be broadcasted by Zoom Video Webinar at specific times on the scheduled dates. We are also going
to arrange on-demand delivery for CPD and Oral sessions in May for a few weeks as far as each speaker approves.
Detailed descriptions on each session are as follows.
SessionTalk Length

Presentation Style

Q&A StyleOn-demand

CPD

15 min. talk & 5 min. Q&A

Live or pre-recorded

Live

Yes

Oral

15 min. talk & 5 min. Q&A

Live or pre-recorded

Live

Yes

1. Chairpersons are required to make pre-registration for the seminar. All registrants will receive invitation email via Zoom
Webinar and another email with instructions on how to access the program in April. Please sign in Zoom Webinar as anattendee during the seminar period.

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Information

2. Chairpersons are requested to standby at least 30 minutes before the beginning of your session starts. Host (Organizer) will
promote chairpersons/speakers to a panelist from attendee at latest 15 minutes prior to the assigned session starts. Pleaseconfirm that all speakers are connected to Zoom. The organizer will attend your session to assist and inform you of any lastminute changes or matters.
3. If a presentation is canceled, please leave the respective time slot as a gap in the schedule. Please DO NOT MOVEREMAINING PRESENTATIONS in the time slot in order to facilitate the audience to listen to the target presentations asscheduled.
4. CPD and Oral speakers can make their presentations as live online or can release their pre-recorded video. Please note that
allotted time is total 20 minutes including 15 minutes talk and 5 minutes Q&A for each speaker. If the presentation exceeds 15
minutes, please prompt to finish the presentation to ensure that the program goes on time.
5. Each presentation will be followed by a short question and answer (Q&A) session. The length of each Q&A session will be at
the discretion of the chairperson(s), depending on the number of speakers and the progress of the presentations in the session.
In cases when extra time is available, the chairperson(s) may invite further questions or remarks from the audience to facilitate
the discussions.
In case of any inquiries, please contact the secretariat at 18jkcpns@jtbcom.co.jp

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Information

Timetable

Sunday, 25 April 2021
SessionSession Time
JST/KST

Session Time
CST

Opening Remarks

09:30 - 09:40

08:30 - 08:40

Continuous Professional
Development 1

09:40 - 10:00

08:40 - 09:00

Oral Case Conference 1-2

10:00 - 10:40

09:00 - 09:40

Break Time

10:40 - 10:50

09:40 - 09:50

Continuous Professional
Development 2

10:50 - 11:10

09:50 - 10:10

Oral Case Conference 3-5

11:10 - 12:10

10:10 - 11:10

Co-Sponsored Seminar

12:10 - 12:50

11:10 - 11:50

Break Time

12:50 - 13:20

11:50 - 12:20

Oral Case Conference 6-7

13:20 - 14:00

12:20 - 13:00

Continuous Professional
Development 3

14:00 - 14:20

13:00 - 13:20

Break Time

14:20 - 14:30

13:20 - 13:30

Oral Case Conference 8-9

14:30 - 15:10

13:30 - 14:10

Continuous Professional
Development 4

15:10 - 15:30

14:10 - 14:30

Closing Remarks

15:30 - 15:40

14:30 - 14:40

10

ProgramNo.

Presentation Time
JST/KST

Presentation Time
CST

CPD-1

09:40 - 10:00

08:40 - 09:00

O-1

10:00 - 10:20

09:00 - 09:20

O-2

10:20 - 10:40

09:20 - 09:40

CPD-2

10:50 - 11:10

09:50 - 10:10

O-3

11:10 - 11:30

10:10 - 10:30

O-4

11:30 - 11:50

10:30 - 10:50

O-5

11:50 - 12:10

10:50 - 11:10

12:10 - 12:50

11:10 - 11:50

O-6

13:20 - 13:40

12:20 - 12:40

O-7

13:40 - 14:00

12:40 - 13:00

CPD-3

14:00 - 14:20

13:00 - 13:20

O-8

14:30 - 14:50

13:30 - 13:50

O-9

14:50 - 15:10

13:50 - 14:10

CPD-4

15:10 - 15:30

14:10 - 14:30

Program

Program

April 24th (Sat), 2021
15:00-16:00（14:00-15:00）

Business Meeting

April 25th (Sun), 2021
Opening Remarks						
9:30-9:40（8:30-8:40）

9:40-10:00（8:40-9:00）
9:40-10:00（8:40-9:00）

Yoshitsugu Kaku (Fukuoka Children’s Hospital, Japan)
Koichi Nakanishi (Graduate School of Medicine, University of the Ryukyus, Japan)

Continuous Professional Development 1
CPD-1 Chairperson: Jianhua Zhou (Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China)
IgA Nephropathy: Nationwide Study
Jin Soon Suh, Department of Pediatrics, Bucheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Korea

10:00-10:40（9:00-9:40）
10:00-10:20（9:00-9:20）

Oral Case Conference 1-2
O-1 Chairperson: Noriko Sugawara (Tohoku University, Japan)
A case of steroid-resistant nephrotic syndrome: Immune-mediated acquired
lecithin-cholesterol acyltransferase deficiency?
Yu Zhang, Fengjie Yang, Qing Xie, Jianhua Zhou
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China

10:20-10:40（9:20-9:40）

O-2 Chairperson: Eun Mi Yang (Chonnam National University, Korea)
Membranous nephropathy in a boy with Pompe disease undergoing enzyme
replacement therapy
Keigo Sasaki1,2, Shuichi Ito1,2, Toru Uchimura2, Aya Inaba2, Saori Deki2, Midori Desaki2, Kenichi Ohashi3,
Mai Matsumura3, Masako Otani4, Junko Hanakawa5, Koji Muroya5
1. Department of Pediatrics , Yokohama City University Hospital, Japan
2. Department of Pediatrics , Yokohama City University Medical Center, Japan
3. Department of Pathology , Yokohama City University Hospital, Japan
4. Department of Pathology , Yokohama City University Medical Center, Japan
5. Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Japan

10:40-10:50（9:40-9:50） Break Time
10:50-11:10（9:50-10:10）

Continuous Professional Development 2

10:50-11:10（9:50-10:10）

CPD-2 Chairperson: Hiroshi Saito (Itabashi Chuo Medical Center, Japan)
Pathology of Hereditary Nephrotic Syndrome in Children
Suxia Wang
Laboratory of Electron Microscopy, Pathological Center, Peking University First Hospital / Institute of Nephrology, Peking University, Beijing, China

12

Program
11:10-12:10（10:10-11:10）
11:10-11:30（10:10-10:30）

Oral Case Conference 3-5
O-3 Chairperson: Xiaoyun Jiang (The First Affiliated Hospital, Sun Yat-sen University, China)
Possible deleterious effect of iron deposition and CD163-positive macrophage inmacrohematuria induced acute kidney injury of IgA nephropathy
Shingo Ishimori1, Hiroshi Kaito2, Yuriko Tanaka3, Hiroyoshi Matsukura4, Naofumi Imai5, Shigeo Hara6,
Kandai Nozu7, Kazumoto Iijima7
1. Department of Pediatrics, Takatsuki General Hospital, Osaka, Japan
2. Department of Nephrology, Hyogo Prefectural Children Hospital, Hyogo, Japan
3. Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan
4. Department of Pediatrics, Saiseikai Toyama Hospital, Toyama, Japan
5. Division of Clinical Nephrology and Rheumatology, Kidney research center, Niigata University Graduate School of Medical and Dental
Sciences, Niigata, Japan
6. Department of Diagnostic Pathology, Kobe City Medical Center General Hospital, Hyogo, Japan
7. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan

11:30-11:50（10:30-10:50）

O-4 Chairperson: Yoshinobu Nagaoka (Sapporo Medical University, Japan)
The Role of Anti-Phospholipase A2 Receptor Antibody in the Diagnosis and Treatmentof Pediatric Membranous Nephropathy
Min Ji Park1, Hea Min Jang1, Hee Sun Baek1, Man Hoon Han2, Yong Jin Kim2, Min Hyun Cho1
1. Department of Pediatrics, Kyungpook National University, School of Medicine, Daegu, Korea
2. Department of Pathology, Kyungpook National University, School of Medicine, Daegu, Korea

11:50-12:10（10:50-11:10）

O-5 Chairperson: Seong Heon Kim (Seoul National University, Korea)
Primary lymphatic system dysplasia and atypical hemolytic uremic syndrome coexist
in one child, is there a relationship?
Shan Jian, Zhaoyu Chen, Yaohua Dong, Zhuo Li, Yanyan He, Hongmei Song, Min Wei
Department of Pediatrics, Peking Union Medical College Hospital, China

12:10-12:50（11:10-11:50）

Co-Sponsored SeminarCo-sponsored by Mitsubishi Tanabe Pharma Corporation

Chairperson: Motoshi Hattori (Tokyo Women's Medical University, School of Medicine, Japan)

Management of cytomegalovirus infection after pediatric kidney transplantation
Yuko Hamasaki
Department of Nephrology, Toho University Faculty of Medicine, Japan

12:50-13:20（11:50-12:20） Break Time
13:20-14:00（12:20-13:00）
13:20-13:40（12:20-12:40）

Oral Case Conference 6-7
O-6 Chairperson: Xuhui Zhong (Peking University First Hospital, China)
Familial juvenile hyperuricemic nephropathy
Jiwon Jung1, Beom Hee Lee1,2, Joo Hoon Lee1, Young Seo Park1
1. Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2. Department of Medical Genetics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

13:40-14:00（12:40-13:00）

O-7 Chairperson: Tadafumi Yokoyama (Kanazawa University, Japan)
ANCA-associated vasculitis with anti-GBM autoantibody positive: a case report
Ke Xu1, Baige Su1, Xuhui Zhong1, Huijie Xiao1, Jie Ding1, Suxia Wang2, Fang Wang1, Yong Yao1
1. Department of Pediatrics, Peking University First Hospital, Beijing, China
2. Department of Electron microscope, Peking University First Hospital, Beijing, China

13

Program
14:00-14:20（13:00-13:20）
14:00-14:20（13:00-13:20）

Continuous Professional Development 3
CPD-3 Chairperson: Aihua Zhang (Children's hospital of Nanjing Medical University, China)
Alport syndrome UP TO DATE Clinical-pathological overviews and case presentations
Takayuki Okamoto, Yasuyuki Sato, Asako Hayashi, Toshiyuki Takahashi
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan

14:20-14:30（13:20-13:30） Break Time
14:30-15:10（13:30-14:10）
14:30-14:50（13:30-13:50）

Oral Case Conference 8-9
O-8 Chairperson: Jae Il Shin (Severance Children’s Hospital, Korea)
Nephronophthisis: case report of an adolescent girl and up-to-date results of a national
survey in Japanese children
Yusuke Okuda1, Yuko Hamasaki2, Keisuke Sugimoto3, Mika Okutsu4, Shinya Kon1, Riku Hamada5,
Tetsuji Kaneko6, Kenji Ishikura1
1. Department of Pediatrics, Kitasato University School of Medicine
2. Department of Nephrology, Toho University Faculty of Medicine
3. Department of Pediatrics, Kindai University Faculty of Medicine
4. Department of Pediatrics, Tokyo Medical and Dental University
5. Department of Nephrology, Tokyo Metropolitan Children's Medical Center
6. Department of Clinical Research, Tokyo Metropolitan Children's Medical Center

14:50-15:10（13:50-14:10）

O-9 Chairperson: Masayuki Ishihara (Kochi Medical School, Kochi University, Japan)
Can medullary nephrocalcinosis be a specific diagnostic clue to hereditarynephropathy with COQ8B mutation?
Jiwon M. Lee1, Jihyun Kim2, Kyung Chul Moon3, Hee Gyung Kang2, Il-Soo Ha2, Hae Il Cheong2,4,5
1. Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea
2. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
3. Department of Pathology, Seoul National University Hospital, Seoul, Korea
4. Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea
5. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea

15:10-15:30（14:10-14:30）

Continuous Professional Development 4

15:10-15:30（14:10-14:30）

CPD-4 Chairperson: Kyoung Hee Han (Jeju National University, Korea)
Alport syndrome UP TO DATE 2 Genetics and novel treatment
Tomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, Kazumoto Iijima
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan

15:30-15:40（14:30-14:40）

Closing Remarks Yoshitsugu Kaku (Fukuoka Children’s Hospital, Japan)

			

Tae-Sun Ha (Chungbuk National University, Korea)

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Program

Poster Presentation

Poster 1 Genetic abnormalities: Study
P-1
Analysis of TRPC6 variation in children with steroid-resistant nephritic syndrome
Zhang Yao, Yu Li, Yu Sheng-You
Department of Pediatrics, Guangzhou First People’s Hospital, China

P-2
Sphingomyelin phosphodiesterase acid-like 3b (SMPDL3b) mediates TLR3 signaling in human podocytes
Shojiro Watanabe, Takao Karasawa, Shun Hashimoto, Hidenori Umetsu, Riko Sato, Masashi Fujita, Tomomi Aizawa, Koji Tsugawa,
Hiroshi Tanaka
Department of Pediatrics, Hirosaki University, Japan

P-3
Association of podocyte lesions with novel CUBN gene mutations in three isolated proteinuric children
Jing Yang, Linxia Deng, Liru Qiu, Yu Zhang, Jianhua Zhou
Tongji Hospital, Tongji Medical college, Huazhong University of Science and Technology, Wuhan, China

P-4
Genotype-phenotype correlations in pediatric patients with HNF1B mutations
Seon Hee Lim1, Ji Hyun Kim2, Jungsue Kim3, Kyoung Hee Han4, Hee Gyung Kang1, Il-Soo Ha1, Yo Han Ahn1, Hae Il Cheong5
1. Department of Pediatrics, Seoul National University of Children’s Hospital, Seoul, Korea
2. Department of Pediatrics, Bundang Seoul National University Hospital, Seongnam, Korea
3. Department of Pediatrics, Cheongju St. Mary’s Hospital, Cheongju, Korea
4. Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea
5. Department of Pediatrics, Hallym University Hospital, Anyang, Korea

P-5
The Clinical and Genetic Heterogeneity of Chinese Children with TTC21B Mutation Caused NephronophthisisRelated Ciliopathies
Lei Sun1, Jing Zhang1, Xin-yu Kuang1, Chen-hui Huang2, Yu-lin Kang1, Wen-yan Huang1
1. Department of Nephrology and Rheumatology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai, PR China
2. Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China

Poster 2 Genetic Abnormalities: CaseP-6
A Novel Compound Heterozygous Mutation in LAMB2 Gene in a Chinese Boy With Isolated Proteinuria
Ling Hou, Yubin Wu, Zhao Chengguang, Yue Du
Department of Pediatric Nephrology, Shengjing Hospital of China Medical University, China

P-7
A PKD1 and SLC36A2 mutation in pediatric patient with polycystic kidney and nephrocalcinosis
Jeong Yeon Kim1, Beom Hee Lee2, Heeyeon Cho1
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
2. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Program

P-8
A novel de novo truncating TRIM8 mutation associated with childhood-onset focal segmental
glomerulosclerosis without epileptic encephalopathy
Yoko Shirai1, Kenichiro Miura1, Naoto Kaneko1, Kiyonobu Ishizuka1, Amane Endo2, Taeko Hashimoto3, Shoichiro Kanda4, Yutaka Harita4,
Motoshi Hattori1
1. Department of Pediatric Nephrology, Tokyo Women’s Medical University, Tokyo, Japan
2. Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan
3. Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
4. Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

P-9
Mutations in TTC21B in two siblings with young childhood onset cause different phenotypes in China
Rong Liping, Zhou Min, Pei Yuxin, Mo Ying, Jiang Xiaoyun
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University

P-10
Exercise-induced acute kidney injury in an adolescent boy with a mutation of SCL22A12 gene causing renal
hypouricemia
Erika Imura1,2, Tae-Sun Ha1,2
1. Department of Pediatrics, Chungbuk National University, College of Medicinel, Cheongju, Korea
2. Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Korea

P-11
A case of focal segmental glomerulosclerosis (FSGS) in an infant in whom hepatic fibrosis were observed andmutations in TTC21B were identified
Ryoko Harada1, Riku Hamada1, Koki Tomari2, Hayato Togashi1, Takashi Honda1, Kazushi Agata1, Asako Kageyama1, Ayumi Shimizu1,
Keiji Akamine1, Chikako Terano1, Naoya Morisada3,4, Kandai Nozu4, Kentaro Ogata5, Kazumoto Iijima4, Masataka Honda1, Hiroshi Hataya1
1. Department of Nephrology Tokyo Metropolitan Children’s Medical Center, Tokyo Japan
2. Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center & Children's Medical Center
3. Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Japan
4.Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
5.Department of Diagnostic Pathology, Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital, Japan

P-12
A case of Gordon syndrome with a CUL3 mutation presented with short stature
Ji Hong Park1, Hee Gyung Kang1, Il-Soo Ha1, Hae Il Cheong1, Yo Han Ahn2
1. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
2. Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea

P-13
Two male relatives with OFD1 mutations
Takuzo Wada1, Yuko Shima1, Yu Tanaka1, Hironobu Mukaiyama1, Naoya Morisada2, Kandai Nozu2, Kazumoto Iijima2, Koichi Nakanishi3
1. Pediatrics, Wakayama Medical University, Japan
2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
3. Department of Pediatrics, Graduate School of Medicine, University of Ryukyus, Nishihara, Japan

P-14
A case with Proteinuria and Renal biopsy findings resembling Fabry disease
Han Geul Kim, Kee Hyuck Kim, Jeong Hae Kie
Departments of Pediatrics and Pathology, NHIS Ilsan Hospital, Goyang, Korea

16

Program

P-15
A HNF1B-related disorders: two cases in JapaneseShinichi Shiona1, Yoshitsugu Kaku2, Takuro Ohno1
1. Department of Pediatrics, Oita Prefectural Hospital, Japan
2. Department of Nephrology, Fukuoka Children’s Hospital, Japan

P-16
A case report of hereditary renal tubule dysplasia with anemia
Xiaoyuan Wang, Fang Wang, Jie Ding
Department of Pediatrics, Peking University First Hospital, Beijing, China

Poster 3 Alport syndrome
P-17
Alport syndrome overlapping with IgA nephropathy: a case report
Min Li, Youjing Xu, Hongrong Lin, Wei Han, Sijin Wang, Liangzhong Sun
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou, China

P-18
A Case of Autosomal Recessive Alport Syndrome with Acute Kidney Injury on Lisinopril medication
Daisuke Nakanishi1, Wataru Shimabukuro1, Kazuya Hamada1, Shougo Nakada1, Masatsugu Uehara2, Shigeru Fukuyama2, Tomoo Kise2,
Kandai Nozu3, Kazumoto Iijima3, Noriko Kinjo1, Koichi Nakanishi1
1. Department of Pediatrics, Graduate School of Medicine, University of the Ryukyus, Japan
2. Division of Pediatric Nephrology, Okinawa Prefectural Nanbu Medical Center-Children’s Medical Center, Japan
3. Department of Pediatrics, Kobe University Graduate School of Medicine, Japan

P-19
Study on the timing of renal biopsy in Alport syndrome
Yusuke Hiyoshi1, Ayuko Zaitsu1, Kenichiro Miura2, Eriko Tanaka3, Masayuki Ishihara4, Yoshinobu Nagaoka5, Rika Fujimaru6, Kazuki Tanaka7,
Yuji Kano8, Riku Hamada9, Seiji Tanaka1
1. Department of Pediatrics, Kurume University Hospital
2. Department of Nephrology and Pediatrics, Tokyo Women's Medical University
3. Department of Pediatrics, Kyorin University School of Medicine
4. Department of Pediatric and Adolescent Medicine, Kochi University School of Medicine
5. Department of Pediatrics, Sapporo Medical University Hospital
6. Department of Pediatric Medicine Center, Osaka City General Hospital
7. Aichi Children's Health and Medical Center
8. Department of Pediatrics, Nasu Red Cross Hospital
9. Tokyo Metropolitan Children's Medical Center

Poster 4 Congenital Disease
P-20
A case with familial short - rib thoracic dysplasia with or without polydactyly
Jiwon Jung1, Beom Hee Lee1,2, Joo Hoon Lee1, Young Seo Park1
1. Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2. Department of Medical Genetics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

17

Program

P-21
Wilson’s disease in a child with nephrotic syndrome: a case report and literature review
HuiQin Zhou, Fang Deng
AnHui Provincial Children’s Hospital, China

P-22
Withdrawn

P-23
A case of primary hyperoxaluria diagnosed by urine gas chromatography / mass spectrometry
Junichiro Araki1, Yoriko Watanabe1,2, Seiji Tanaka1
1. Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan
2. Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan

P-24
A case of Russell-Silver syndrome born in the phenotype of Potter sequence and renal malformations
Hye Ran Ko1, Hyeon Ju Lee2, Kyoung Hee Han3
1. Jeju National University School of Medicine, Jeju, Korea
2. Department of Pediatrics, Jeju National University Hospital, Jeju, Korea
3. Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea

P-25
A case of cyclic vomiting syndrome with persistent strong hypertension
Hidetoshi Go1, Tamaki Morohashi1, Kimitaka Nakazaki1, Shoichi Shimizu1, Shori Takahashi2, Ichiro Morioka1
1. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan
2. Itabashi Chuo Medical Center, Tokyo, Japan

P-26
Long-term outcome of Bartter syndrome
Naye Choi1, Hyewon Park2, Il-Soo Ha1, Hae Il Cheong1, Hee Gyung Kang1
1. Departments of Pediatrics, Seoul National University Children's Hospital & College of Medicine
2. Departments of Pediatrics, Jang’s Women’s Hospital, Seoul, Korea

Poster 5 IgA nephropathy/HSPN
P-27
Involvement of activated cytotoxic T lymphocytes and natural killer cells in Henoch–Schönlein purpura
nephritis
Takashi Imai1, Kei Nishiyama1, Kenji Ueki2, Tamami Tanaka1, Yoshitsugu Kaku3, Toshiro Hara4, Shouichi Ohga1
1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
2. Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
3. Department of Pediatric Nephrology, Fukuoka Children's Hospital, Fukuoka, Japan
4. Kawasaki Disease Center, Fukuoka Children's Hospital, Fukuoka, Japan

P-28
MYH9 associated disorders with the onset of Henoch- Schönlein purpuric nephritis: a case report
Jingyi Wu, Lizhi Chen, Xiaoyun Jiang
Pediatric department, the First Affiliated Hospital of Sun Yat-sen University

18

Program

P-29
A case of glomerulonephritis with the glomerular basement membrane abnormality and mesangial IgA
deposition
Sadayuki Nagai1, Shinya Ishiko1, Shigeo Hara2, Atsushi Kondo1, Yuya Aoto1, Nana Sakakibara1, China Nagano1, Tomoko Horinouchi1,
Tomohiko Yamamura1, Takeshi Ninchoji1, Yuko Shima3, Norishige Yoshikawa4, Koichi Nakanishi5, Kandai Nozu1, Kazumoto Iijima1
1. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
2. Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, Kobe, Japan
3. Department of Pediatrics, Wakayama Medical University, Wakayama, Japan
4. Clinical Research Center, Wakayama Medical University, Wakayama, Japan
5. Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of Ryukyus, Okinawa, Japan

P-30
The role of school urinalysis in the discovery of IgA nephropathy in the Kyushu / Okinawa area
Kyoko Kiyota1,2, Katsuji Kuwakado2,3, Yasufumi Otuka2,3, Tomoyasu Kawano2, Takao Konomoto2, Mari Saimiya2, Tosihiko Sirakawa2,3,
Seiji Tanaka2, Masafumi Teramachi2, Hitoshi Nakazato2,3, Koichi Nakanishi2, Kei Nishiyama2, Ken Hatae2, Akinori Miyazono2,
Yoshitsugu Kaku2,3
1. Department of Pediatrics, Oita University Faculty of Medicine, Japan
2. Kyushu Pediatric Nephrology Study Group, Japan
3. The Kyushu council for in-school examination, Japan

Poster 6 C3 nephropathy/aHUS
P-31
Discrepancies between CH50 and Free C5 concentrations in 4 cases of aHUS treated with ravulizumab
Kazuki Tanaka1, Naoya Fujita1, Satoshi Hibino1, Stephan Ortiz2
1. Department of Nephrology, Aichi Children’s Health and Medical Center, Japan
2. Alexion Pharmaceuticals Inc, Boston, MA, USA

P-32
C3 Glomerulonephritis: A Entity of Complement Driven-Renal Disease in Children with Unsatisfactory
Outcome
Yulin Kang, Ping Wang, Ying Wu, Guang-hua Zhu, Wen-yan Huang
Department of Nephrology and Rheumatology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China

P-33
A case of crescent C3 glomerulonephritis (C3GN) difficult to distinguish from monoclonal immunoglobulin(Ig)G deposits (PGNMID)
Takashi Honda1,2, Riku Hamada1,2, Atsuko Anno2, Kantaro Kobayashi2, Keiji Akamine1, Chikako Terano1, Ryoko Harada1, Hideyo Oguchi3,
Takatoshi Tsuchihashi2, Kazutoshi Shibuya4, Ken Sakai3, Hideo Cho2, Yutaka Yamaguchi5, Masataka Honda1, Hiroshi Hataya1
1. Department of Nephrology, Tokyo Metropolitan Children’s Medical Center, Japan
2. Department of Pediatrics, Kawasaki Municipal Hospital, Japan
3. Depatment of Nephrology, Toho University Faculty of Medicine
4. Department of Pathology, Toho University Faculty of Medicine
5. Yamaguchi’s Pathology Laboratory

P-34
WT1 disorder associated with C3 glomerulonephritis? Difficulty in differential diagnosis: A case report
Lin Zhilang, Rong Liping, Pei Yuxin, Qiu Yuanquan, Yue Zhihui, Mo Ying, Jiang Xiaoyun
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, China

19

Program

Poster 7 Glimeruronephritis
P-35
Periodic Fever with Pauci-immune Crescentic Glomerulonephritis in a Chinese GirlLu Yin, Ling Hou, Yubin Wu, Zhao Chengguang, Yue Du
Department of Pediatric Nephrology, Shengjing Hospital of China Medical University, China

P-36
Focal segmental glomerulosclerosis in a patient with atypical progeroid
Seoyun Jang, Seon Hee Lim, Ji Hyun Kim, Beom Hee Lee, Hee Gyung Kang, Hae Il Cheong, Il-Soo Ha
Department of Pediatrics, Seoul National University Children's Hospital & College of Medicine, Seoul, Korea

P-37
A case of shunt nephritis characterized by Lupus-like syndrome
Liao Panli, Wang Xiaowen, Qi Chang, Zhu Gaohong, Ding Juanjuan, Zhang Hongying
Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology

P-38
Two cases of children who had hematuria with or without mild proteinuria with normal renal function andpositive anti-neutrophil cytoplasmic antibody
Joo Hoon Lee1, Jiwon Jung1, Heounjeong Go2, Young Seo Park1
1. Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2. Department of Pathology, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

P-39
Staphylococcus associated glomerulonephritis in child: a case report and review of literature
Han Meigui, Han Ziming
Department of Pediatrics, The First Affiliated Hospital of Xinxiang Medical University, China

P-40
Withdrawn

P-41
Successful Treatment of two cases with Streptococcus Pneumoniae-associated Hemolytic Uremic Syndrome byanti-T-antibody Negative plasma exchange
Ling Hou, Yubin Wu, Yue Du
Department of Pediatric Nephrology, Shengjing Hospital of China Medical University, China

P-42
Case Report: Were Membranous nephropathy Associated With Evans’ syndrome in Childhood?
Huiying Deng, Xia Gao, Ye Chen, Huabin Yang, Xiaoyi Cai, Hui Deng
Department of Nephrology, Guangzhou Women and Children Medical Center20

Program

Poster 8 Nephrotic sindrome
P-43
Nephrotic syndrome relapse in a boy with COVID-19
Akio Kagawa, Takuji Enya, Yuichi Morimoto, Rina Oshima, Kohei Miyazaki, Tomoki Miyazawa, Mitsuru Okada, Keisuke Sugimoto
Department of Pediatrics, Kindai University Faculty of Medicine, Osaka-Sayama, Japan

P-44
A case of nephrotic syndrome caused by COQ6 gene mutation with significant podocyte hypertrophy
Baige Su, Suxia Wang, Xuhui Zhong, Xiaoyu Liu, Yanqin Zhang
Department of Pediatric, Peking University First Hospital, China

P-45
A steroid-resistant nephrotic syndrome in a patient with coenzyme Q6 mutation: a case report of two sibling
Eun Mi Yang, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong
Department of Pediatrics, Chonnam National University Hospital and Chonnam National University Medical School, Seoul National University Children's Hospital

P-46
Intermediate stage of Citrin deficiency with nephrotic syndrome: a case report and literature review
Xu Lingling, Yue Zhihui, Peng Huimin, Mo Ying, Jiang Xiaoyun
Pediatric department, The First Affiliated Hospital, Sun Yat-sen University

P-47
Withdrawn

P-48
A case of thrombotic microangiopathy with nephrotic syndrome
Momoyo Matsuda, Ryutarou Hisatomi, Rika Fujimaru
Department of Pediatrics, Osaka City General Hospital, Osaka, Japan

P-49
Clinical analysis of children having primary nephrotic syndrome complicated with posterior reversible
encephalopathy syndrome on treatment of immunosuppressants
Tan Junjie, Zhu Weixue,Yu Shengyou, Hao Zhihong, Yu Li, Lu Wei
Department of Pediatrics, Guangzhou First People's Hospital, Guangzhou, China

P-50
Pathological Findings of Acute Kidney Injury in a Nephrotic Syndrome Patient Requiring Emergency Dialysis
during Methylprednisolone Pulse Therapy
Yoshinori Banno1,3, Shunsuke Shinozuka1, Yui Shibata1, Yooka Nam1, Shinsuke Matsumoto1, Bunshiro Akikusa2, Ryugo Hiramoto1
1. Department of Pediatrics, Children's Medical Centre, Matsudo City General Hospital, Matsudo, Japan
2. Department of Pathology, Matsudo City General Hospital, Matsudo, Japan
3. Department of Pediatrics, National Hospital Organizaiton Saitama Hospital, Wako, Japan21

Program

Poster 9 CKD/Dialysis
P-51
Schimke immuno-osseous dysplasia; disease progression after kidney transplantation
Hyun Ah Woo1, Seonhee Lim1, Ji Hyun Kim1, Eujin Park2, Yo Han Ahn1, Seong Heon Kim3, Ghee Young Kwon4, Il-Soo Ha1, Hae Il Cheong1,
Hee Gyung Kang1
1. Departments of Pediatrics, Seoul National University Children's Hospital & College of Medicine
2. Kangnam Sacred Heart Hospital, College of Medicine, Hallym University
3. Pusan National University Children’s Hospital, Yangsan, Korea
4. Departments of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine

P-52
Risk factors for post-nephrectomy hypotension in pediatric patients: a single-center observational study
Kentaro Nishi1, Koichi Kamei,1, Masao Ogura1, Mai Sato1, Sho Ishiwa1,2, Yoko Shioda3, Chikako Kiyotani3, Kimikazu Matsumoto3,
Kandai Nozu4, Kenji Ishikura1,5, Shuichi Ito1,6
1. Division of Nephrology and Rheumatology, National Center for Child Health and Development, Japan
2. Department of Pediatric Nephrology, Tokyo Women`s Medical University, Japan
3. Children’s Cancer Center, National Center for Child Health and Development, Japan
4. Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
5. Department of Pediatrics, Kitasato University School of Medicine, Japan
6. Department of Pediatrics, Yokohama City University Graduate School of Medicine, Japan

P-53
Calcifications in children on maintenance peritoneal dialysis
Jeesu Min, Seon Hee Lim, Ji Hyun Kim, Il Soo Ha, Hae Il Cheong, Hee Gyung Kang
Department of Pediatrics, Seoul National University Hospital, Seoul, Korea

Poster 10 Others
P-54
A case of DICER1 syndrome presenting as Wilm’s tumor and contralateral progressive cystic nephroma;
Newly Known Cancer Predisposition Syndrome
Ji Yeon Song, Eu Jeen Yang, Chong Kun Cheon, Seong Heon Kim
Department of Pediatrics, Pusan National University Children’s Hospital, Korea

P-55
A case of a 17-month-old boy presenting abnormal pelvic mass
Kyung Mi Jang, Yong Hoon Park
Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Korea

P-56
Additional preventative effect of probiotics on low-dose antibiotic prophylaxis for urinary tract infection inchildren with vesicoureteral reflux
Yuko Akagawa, Shohei Akagawa, Tadashi Yamaguchi, Sohsaku Yamanouchi, Takahisa Kimata, Shoji Tsuji, Kazunari Kaneko
Department of Pediatrics, Kansai Medical University, Osaka, Japan

P-57
Group B streptococcal renal abscess in a 17-year-old girl with type 1 diabetes mellitus
Kyeong Eun Oh, Sung Man Park, Hyung Eun Yim, Kee Hwan Yoo
Department of Pediatrics, Korea University College of Medicine, Seoul, Korea

22

Abstracts

Abstracts

Continuous Professional Development[CPD-1]IgA Nephropathy: Nationwide Study
Jin Soon Suh*
Department of Pediatrics, Bucheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Korea*Corresponding author: rebekahjs@catholic.ac.kr

Backgrounds: Immunoglobulin A nephropathy (IgAN) is among the most common of the primary glomerulopathies in children
and adolescents worldwide, especially in Asian countries. It has variable outcomes along with variable initial presentations.
Therefore, efforts have been made to detect and to validate clinical and pathological risk factors that may be used to predict
the outcome of and to determine treatments for patients diagnosed with IgAN. However, more than a few questions regarding
the long term outcomes and associated risk factors remain to be answered with respect to IgAN in children. To address someof these questions and to broaden our knowledge of this common glomerulopathy, members of the Korean Society of Pediatric
Nephrology (KSPN) conducted a nation-wide study with the goal of evaluating the long-term outcomes associated with IgAN.
Case: Total of 1154 subjects who diagnosed with IgAN by renal biopsy before the age of 18 during the period from 1985 to 2015
and were followed for at least 1 year at one of 20 centers by pediatric nephrologists of KSPN were evaluated retrospectively. In
Korea, school urine screening (SUS) tests have been conducted since 1998 [3]. Therefore, the mode of detection (by SUS or not)was also evaluated, and the outcomes of those presented before and after the year 2000 were compared. Of the 1154 patients (768males, 386 females) with a median follow-up of 5 years, 5.6% (n = 65) progressed to stage 3–5 chronic kidney disease (CKD).
The 10- and 20-year CKD-free survival rates were 91.2% and 75.6%, respectively. Outcomes did not differ when comparing
those in Korea who were diagnosed prior to versus after the year 2000. On multivariate analysis, combined asymptomatic
hematuria and proteinuria (CHP) as presenting symptoms and decreased renal function at the time of biopsy were associated with
progression to CKD, while remission of proteinuria was negatively associated with this outcome. Patients who presented withgross hematuria or nephrotic syndrome tended toward positive outcomes, especially if they ultimately achieved remission.
Conclusions: The outcomes in this cohort of Korean children diagnosed with IgAN were similar to those previously reported.
CHP as a presenting symptom and decreased renal function at biopsy were both important risk factors for progression to CKD.
Achieving remission of proteinuria was an independent prognostic factor that negatively correlated with progression to CKD; thisis important given that this may be a clinically modifiable variable, while remission of proteinuria might imply that the disease isinherently less aggressive. Mass urine screening tests might be helpful for early detection and treatment; however, SUS as a modeof detection did not have a significant impact on the outcome of IgAN.
Points of discussion: What is the best treatment for each patient of IgAN, especially with regard to immunosuppressanttreatments?

24

Abstracts

Continuous Professional Development[CPD-2]
Pathology of Hereditary Nephrotic Syndrome in Children
Suxia Wang
Laboratory of Electron Microscopy, Pathological Center, Peking University First Hospital;Institute of Nephrology, Peking University, Beijing 100034, China

Proteinuria and nephrotic syndrome are the common manifestations of glomerular disease, which reflect dysfunction of theglomerular filtration barrier (GFB) leading to loss of protein into the urine. Podocytes are the core component of GBF, which arehighly differentiated epithelial cells, with its interdigitating foot processes connection to form slit diaphragm, cover the outsideof GBM and play a key role in the selective ultrafiltration of proteins. Injury of podocytes and dysfunction of GFB can be causedby diverse etiologies and pathogenetic mechanisms, including maladaptation, infections, drugs, toxins, ischemia, immunemediated injury, and genetic abnormalities. In childhood, genetic associated proteinuria or nephrotic syndrome is higher thanthat of adults, usually presents steroid-resistant with a rapidly progression to ESRD and poor prognosis. With the advances ofhigh-throughput sequencing techniques including next-generation sequencing, whole-exome sequencing(WES), and wholegenome sequencing(WGS), over 50 monogenic mutations in podocyte-associated proteins have been identified, which has greatly
improved our understanding on molecular pathogenesis of hereditary proteinuria and nephrotic syndrome. However, there is asignificant heterogeneity in the clinical manifestation among individuals with hereditary proteinuric diseases, the histologicalfeatures of renal biopsy may provide some useful clues to direct further genetic testing or therapeutic consideration. There is adiverse spectrum of pathological patterns in children with genetic causes, from the most commonly patterns such as minimalchange disease, focal segmental glomerulosclerosis(FSGS), and diffuse mesangial sclerosis(DMS), to the less reported types
including mesangial proliferative glomerulonephritis, membranoproliferative glomerulonephritis, collapsing glomerulopahty, andvery rarely pattern as thrombotic microangiopathy. The immunofluorescent detection for immunoglobulins and complements is
usually negative or trace, the electron microscopy may provide useful information for differential diagnosis by the ultrastructuralchange of podocyte and GFB, including effacement of foot processes, cytoplasmic aggregation of microfilaments, andabnormalities in the structure of glomerular basement membrane and endothelial cells. Although the renal histological patterns
could not specifically correlate with the genetic results in a majority, there is a general pathological characteristics to predict thegenetic causes based on the previous renal biopsies, which help clinicians to preliminary differentiate the etiology of proteinuria
or nephrotic syndrome. The current presentation would like to summary the principle features of renal pathological lesions related
to genetic causes in children with proteinuria or nephrotic syndrome.
Reference:
1. Preston R, Stuart RM, Lennon R. Pediatric Nephrol 2019; 34: 195-210.
2. Vriese An S De, Sethi S, Nath KA, etal. J Am Soc Nephrol 2018; 29:759-774.
3. Wang F, Zhang Y, Mao J, et al. Pediatric Nephrol 2017; 32: 1181-1192.

25

Abstracts

Continuous Professional Development[CPD-3]
Alport syndrome UP TO DATEClinical-pathological overviews and case presentations
Takayuki Okamoto*, Yasuyuki Sato, Asako Hayashi and Toshiyuki Takahashi
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Japan*Corresponding author: okamon@med.hokudai.ac.jp

Alport syndrome (AS) is an inherited disorder caused by pathogenic variants in type IV collagen coding genes resulting inprogressive glomerulonephritis which frequently develop to end-stage kidney disease (ESKD), sensorineural hearing loss, andocular abnormalities. AS has been reported to develop in approximately 1 in 5000 people, and it comprises 0.5% of newly
developed ESKD cases in adults and 12% in children. It is divided into three mode of inheritance, namely, X-linked Alport
syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic
variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Approximately 80%, 15% and 5% of AS
patients have XLAS, ARAS and ADAS.
In this CPD entitled “clinical and pathological overviews and case presentations”, I would like to present the clinical andpathological features, diagnostic criteria written in a guideline published from The Japanese Society for Pediatric Nephrology(JSPN). Also, I will present typical and atypical cases with AS. Furthermore, recent several studies in the field of AS changed therecommendation for the diagnosis and management of AS in children. Therefore, these points will be discussed.
Topics of this presentation: clinical and pathological overviews and case presentations:
Clinical and pathological features of AS
Diagnostic criteria of AS in guidelines of JSPN
Case 1: Typical male XLAS patient
Case 2: Male XLAS patient with positive α5-staining
Case 3: XLAS patient with germline mosaicism
Case 4: PSAGN and XLAS
Case 5: Typical ADAS patient
Case 6: Typical ARAS patient
Case 7: Carrier ARAS or TBMN?
Treatment in AS
References of this presentation:
1. Nozu K. et al. Clin Exp Nephrol, doi:10.1007/s10157-018-1629-4 (2019).
2. Okamoto T. et al. J Nephrol, doi:10.1007/s40620-018-0518-y (2018).
3. Araki Y. et al. CEN Case Reports, doi:10.1007/s13730-020-00498-2 (2020).
4. Gross O. et al. Kidney Int, doi:10.1016/j.kint.2019.12.015 (2020).
5. Kashtan CE. et al. Pediatr Nephrol, doi:10.1007/s00467-020-04819-6 (2021).

26

Abstracts

Continuous Professional Development[CPD-4]
Alport syndrome UP TO DATE 2
Genetics and novel treatment
Tomoko Horinouchi*, Kandai Nozu, Tomohiko Yamamura and Kazumoto Iijima
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan*Corresponding author: tohori@med.kobe-u.ac.jp

Alport syndrome (AS) is a progressive hereditary kidney disease accompanied by hearing loss and ocular abnormalities. There
are three types of AS depending on the inheritance mode: X-linked AS (XLAS), autosomal recessive AS (ARAS), and autosomal
dominant AS (ADAS). XLAS is caused by variants in COL4A5, which encodes the type IV collagen α5 chain, while ADAS and
ARAS are caused by variants in COL4A3 or COL4A4, which encode the type IV collagen α3 and α4 chains, respectively. The
carboxyl-end non-collagenous (NC) domain is known to be important in type IV collagen to form both triple helices by α3-4-5
chains and a tight network in glomerular basement membrane by these trimers.
The genotype–phenotype correlation in male patients with XLAS is well established; patients harboring non-truncating mutations
exhibit milder phenotypes compared with those in patients harboring truncating mutations. Our recent retrospective study ofJapanese male patients with XLAS revealed that the median ages of the development of ESKD are 40 years for patients withmissense mutations (NC domain conservative, non-truncating mutations) and 18 years for patients with nonsense mutations(truncating mutations).1 This favorable prognosis by the preservation of the NC domain is the basic concept of exon skipping
therapy, which is described later. In female patients with XLAS, the severity varies even within the same family and/or amongindividuals with the same mutation. Various mechanisms, such as skewed inactivation of the X chromosome and compatibility
with the normal allele in trimerization, have been speculated but inconclusive. Regarding the renal prognosis of patients with ARAS,
we reported that the median age at the onset of ESKD in the Japanese cohort was 27 years, and the severity varied.2 Although it wasdifficult to predict the prognosis simply by genotype, we clarified that whether the individual harboring only 1 heterozygous mutation(for example, the parents of the patients) shows a urine abnormality may affect the severity in ARAS cases.
There are significant progresses in the development of AS treatment. Using conventional ACEI/ARB treatments, our study
found that more than half of male patients with XLAS harboring non-truncating mutations did not develop ESKD at the ageof 50 years, while those with truncating mutations developed ESKD at a median age of 28 years.1 Therefore, the developmentof more effective therapy is desired, especially for patients exhibiting severe symptoms associated with truncating mutations.
Bardoxolone methyl activates Nrf2 and suppresses inflammation, which contributes to GFR reductions in chronic kidney disease.
The CARDINAL study, an international, multi-center, phase 2/3 trial to study the safety, tolerability, and efficacy of bardoxolone
methyl in patients with AS, revealed that patients treated with bardoxolone showed a statistically significant improvementcompared to those treated with placebo in terms of the mean change from baseline in the estimated GFR of 7.7 mL/min/1.73
m2 (p=0.0005).3 As another treatment target, microRNA-21 is known to be involved in fibrosis in multiple organs including
the kidneys. The administration of anti-microRNA-21 oligonucleotides has been reported to inhibit the progression of renal
damage in an AS mouse model. To evaluate the safety, efficacy, pharmacodynamics, and pharmacokinetics of Lademirsen (antimicroRNA-21 oligonucleotides), a phase 2, randomized, double-blind, placebo-controlled study is ongoing in patients with AS.
In addition, the AFFINITY study, phase 2 trial testing an investigational endothelin receptor antagonist called Atrasentan is now
enrolling patients with AS. Moreover, as a disease-specific custom-made treatment, we reported that in an AS mouse model
harboring a truncating mutation, exon skipping of the mutated exon using an antisense oligonucleotide may preserve the NC
domain and significantly improve the renal prognosis.4 We are now working on the clinical applications in patients with AS.
Points of discussion: Recent advances in the genetics and treatment of Alport syndrome:
1. Yamamura, T. et al. Kidney international, doi:10.1016/j.kint.2020.06.038 (2020).
2. Horinouchi, T. et al. Kidney 360, doi:10.34067/KID.0000372019 (2020).
3. https://www.reatapharma.com/press-releases/reata-announces-positive-results-from-year-2-of-the-pivotal-phase-3-cardinalstudy-of-bardoxolone-methyl-in-patients-with-alport-syndrome/?releaseyear=2020
4. Yamamura, T. et al. Nature communications 11, 2777, doi:10.1038/s41467-020-16605-x (2020).
27

Abstracts

Oral Case Conference[O-1]
A case of steroid-resistant nephrotic syndrome: Immune-mediated acquired
lecithin-cholesterol acyltransferase deficiency?
Yu Zhang, Fengjie Yang, Qing Xie, Jianhua Zhou*
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China*Corresponding author: jhzhou99@qq.com

Backgrounds: Lecithin cholesterol acyltransferase (LCAT) is an enzyme that converts free cholesterol into cholesteryl ester,and loss of its activity causes low HDL-C levels. LCAT deficiency is a rare autosomal recessive disease leading to accumulationof phospholipids in various tissues with multisystem manifestations including fish eye disease, anaemia and renal impairment.
Acquired LCAT deficiency with nephrotic syndrome as an extremely rare disease has been reported in a tiny minority of adultcases, but none in children.
Case: Here, we describe a case of acquired LCAT deficiency with steroid-resistant nephrotic syndrome. Our patient, a 3-yearold boy, presented with severe proteinuria (5.4 g/24h), hypercholesterolemia (>20.7 mmol/L) and edema with a serum creatinineof 25 μmol/L. Steroid had been started for one month without improvement in proteinuria. His past medical history revealed
that from 2 month prior to this presentation, he was hospitalized for repair of VSD, postoperative AKI ocurred and followed bywalking difficulty. No familial history of dyslipidemia and renal disease was noted. No corneal opacity or other characteristic
physical findings of LCAT deficiency were observed. Blood examinations revealed severe dyslipidemia: HDL-C of 1.39 mmol/L,
LDL-C of >11.6 mmol/L, and 13.1 mmol/L triglycerolemia. A renal biopsy revealed glomerular features of LCAT deficiency:vacuolation of podocytes and loops, focal tubular atrophy and interstitial fibrosis, and lamellated structures with electron-densematerial on electron microscopy. Immunofluorescent staining showed deposits of C3, C1q and IgM in the capillary loop walls andmesangium. Because his HDL-C level was normal half year ago, an autosomal recessive LCAT deficiency was unlikely. In orderto test LCAT gene and other gene mutation, whole exome sequencing was performed , which revealed no mutation. We examined
the level of LCAT and found it was normal, suggesting a possible acquired LCAT deficiency. Therefore, the patient was continued
on steroids, with a plan to start cyclosporine A, after which the proteinuria and hypercholesterolemia were partially improved.
Conclusions: To our knowledge, this is the first report of pediatric acquired LCAT deficiency. Serum LCAT activity, anti-LCAT
antibody and lipoprotein fraction analysis should be performed, which are necessary to confirm the diagnosis of acquired LCAT
deficiency. Enzyme replacement therapy is a possible therapeutic option although immunosuppress therapy is partially effective.
Points of discussion:
1. Is this case an acquired form of LCAT deficiency-associated nephrotic syndrome ?
2. What is the etiology of acquired LCAT deficiency?
3. Are there other treatment besides enzyme replacement therapy with recombinant human LCAT and immunosuppress therapy?

28

Abstracts

Oral Case Conference[O-2]
Membranous nephropathy in a boy with Pompe disease undergoing
enzyme replacement therapy
Keigo Sasaki1,2*, Shuichi Ito1,2, Toru Uchimura2, Aya Inaba2, Saori Deki2, Midori Desaki2 ,Kenichi Ohashi3, Mai Matsumura3, Masako Otani4, Junko Hanakawa5, Koji Muroya5
1. Department of Pediatrics , Yokohama City University Hospital, Japan
2. Department of Pediatrics , Yokohama City University Medical Center, Japan
3. Department of Pathology , Yokohama City University Hospital, Japan
4. Department of Pathology , Yokohama City University Medical Center, Japan
5. Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Japan*Corresponding author: gocchinssk@icloud.com

Introduction: In glycogen storage disease type II (Pompe disease), glycogen is accumulated in lysosomes due to deficiency
or decrease in acid α-glucosidase (GAA) activity, and various organ involvements are exhibited. Early initiation of enzyme
replacement therapy (ERT) using recombinant a-glucosidase (rhGAA) can improve the outcome. Patients producing some GAA
are labeled as cross-reactive immunologic material (CRIM)-positive. A few patients are unable to synthesize any GAA and arelabeled “CRIM-negative”. CRIM-negative patients have been known to have poor outcome from ERT due to the developmentof anti-rhGAA antibodies that neutralize the rhGAA. Additionally, some patients develop immune-complex mediatedglomerulonephritis due to the production of anti-rhGAA IgG.
Case: The case is a boy with late-onset Pompe disease. At 3 years-of-age, he was found to have motor developmental delay,
Gowers’ sign, muscle hypertrophy of the lower limbs, and elevated serum creatine kinase and aldolase. At 4 years and 7 months,
he was diagnosed with Pompe disease based on the results of muscle biopsy and decreased GAA activity. Treatment was started
with rhGAA once every 2 weeks, but an allergic reaction appeared from the third infusion, and anaphylaxis was often exhibited.
As the patient was positive for anti-rhGAA antibody,so steroids, rituximab, and methotrexate were used, but the antibody titerremained high. At the age of 14 years, proteinuria was detected by urinalysis and the patient was referred to our institute forfurther evaluation. Renal biopsy revealed stage II membrane nephropathy. Anti-rhGAA antibody-specific immunostaining showed
diffuse positive staining along the glomerular loop, suggesting that the cause was an anti-rhGAA/rhGAA immune complex.
Thereafter, aggressive combined immunotherapy with bortezomib and rituximab targeting antibody-producing cells was initiated.
Serum levels of anti-GAA antibody significantly decreased following this treatment and the proteinuria resolved.
Conclusions: There have been few reports of membranous nephropathy associated with ERT for Pompe disease. Routine urinary
screening in patients undergoing ERT should be considered. We successfully clarified the cause in our patient by immunostaining.
Suppression of anti-rhGAA antibody production by bortezomib and rituximab was effective both in improving proteinuria andpreserving the efficacy of ERT.
Points of discussion: In groups with high anti-rhGAA antibody titers, aggressive B lymphocyte and plasma cell-targeted therapy
could be a good option. However, the optimal therapeutic regimen and its indications have not yet been established. It is also
necessary to develop therapies to increase tolerance to ERT.

29

Abstracts

Oral Case Conference[O-3]
Possible deleterious effect of iron deposition and CD163-positive macrophage inmacrohematuria induced acute kidney injury of IgA nephropathy
Shingo Ishimori1*, Hiroshi Kaito2, Yuriko Tanaka3, Hiroyoshi Matsukura4,
Naofumi Imai5, Shigeo Hara6, Kandai Nozu7, and Kazumoto Iijima7
1. Department of Pediatrics, Takatsuki General Hospital, Osaka, Japan
2. Department of Nephrology, Hyogo Prefectural Children Hospital, Hyogo, Japan
3. Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan
4. Department of Pediatrics, Saiseikai Toyama Hospital, Toyama, Japan
5. Division of Clinical Nephrology and Rheumatology, Kidney research center, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
6. Department of Diagnostic Pathology, Kobe City Medical Center General Hospital, Hyogo, Japan
7. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan* Corresponding author: shingo-i0324os@live.jp

Backgrounds: In the subset of IgA nephropathy, tubular injuries are the major findings of macrohematuria induced acute kidney
injury (MH-AKI). Interstitial macrophages (mφ) are involved in the disease progression of MH-AKI. CD 163, a hemoglobin
scavenger of mφ, is one of the immunohistological markers to detect activated mφ around injured tubular cells. We report a
12-year-old girl of IgA nephropathy with MH-AKI. Her renal histopathology and additional immunohistological studies displayed
possible association of iron deposition and CD163-posiitive mφ infiltration in MH-AKI.
Case: A 12-year-old girl had severe general edema and macrohematuria. A laboratory examination showed normal renal function,
hypoalbuminemia, and severe proteinuria. ANA and ANCA were negative, and her complement levels were normal. Her father
had IgA nephropathy in his childhood. In renal histopathology at 6 days after admission, light microscopy (40 glomeruli) showed
segmental mesangial cell proliferation in three glomeruli, global mesangial cell proliferation in two glomeruli and a fibrous
crescent in one glomerulus. No segmental sclerosis was observed, and immunofluorescent staining predominantly showedmesangial IgA deposit. She was diagnosed with IgA nephropathy. At 11 days after admission under sustained macrohematuria,
she showed deteriorated kidney function with a high fever. Persistence of decreased renal function resulted in a second renal
biopsy at 20 days after admission. Light microscopy (24 glomeruli) showed similar mesangial proliferative change. In addition,acute tubular injury, interstitial inflammation and intratubular red blood cell (RBC) casts were observed. Methylprednisolone
pulse therapy followed by combination therapy with immunosuppressants and oral prednisolone improved her renal function to anormal level. In the further studies to delineate mechanistic insights into the renal dysfunction, CD163-positive cells distributed
around the tubular cells in the first and second biopsy sections. Regarding the iron deposition, 1st biopsy showed slight ironstaining in the tubular cells; in contrast, second biopsy revealed strong iron staining in the tubular cells. Additional three renal
biopsy specimens of IgA nephropathy cases with MH-AKI showed similar distribution of tubular iron deposition and CD163positive cells.
Conclusions: In IgA nephropathy with MH-AKI, iron contained in the intratubular RBC casts and CD163-positive mφ may play
important roles to induce renal tubular injury.
Points of discussion: Previous studies reported that intratubular obstruction by RBC casts could be the causes of MH-AKI in IgA
nephropathy; however, renal tubules filled with RBC casts were scarce in the present case. Could we explain that in addition to
the cast obstructions, iron toxicity derived from RBC casts may also contribute to MH-AKI in IgA nephropathy?

30

Abstracts

Oral Case Conference[O-4]
The Role of Anti-Phospholipase A2 Receptor Antibody in the Diagnosis and Treatment ofPediatric Membranous Nephropathy
Min Ji Park1, Hea Min Jang1, Hee Sun Baek1, Man Hoon Han2, Yong Jin Kim2, Min Hyun Cho1
1. Department of Pediatrics,
2. Department of Pathology,
Kyungpook National University, School of Medicine, Daegu, Korea

Background: Idiopathic membranous nephropathy (MN) is one of the common causes of nephrotic syndrome among adults
but is rare among children (1%-5%). MN is an autoimmune disease caused by autoantibodies against podocyte antigens. Fourantigens known to cause MN include phospholipase A2 receptor 1 (PLA2R), thrombospondin type-1 domain-containing 7A,
neutral endopeptidase, and cationic bovine serum albumin. Among these, anti-PLA2R antibody is mainly associated with thepathogenesis of MN in many adults. Additionally, it has been reported that anti-PLA2R antibodies correspond to MN diseaseactivity and treatment responses. However, the clinical role of anti-PLA2R antibodies in pediatric MN is not well known.
Case: A 6-year-old girl was admitted to our hospital due to proteinuria. She did not show typical features of nephrotic syndrome,such as generalized edema. The laboratory findings during her first admission were as follows: WBC 19770/µL, Plt 845K/µL,
BUN 7.3 mg/dl, serum creatinine 0.18 mg/dl, sodium 144 mmol/L, potassium 4.6 mmol/L, total protein 4.6 g/dL, albumin 2.2
g/dL, total cholesterol 328 mg/dL, TG 672 mg/dl, C3/C4 was 99.4/28.8 mg/dl, ANA/ANCA negative, spot UP/Cr ratio 15.0.
She was diagnosed with nephrotic syndrome, and oral prednisolone (60 mg/m2/day) was started. Although three episodes ofmethylprednisolone pulse therapy (30 mg/kg, max 1000 mg/dose) were performed after 4 weeks of oral prednisolone medication,
her proteinuria persisted. Renal biopsy revealed subepithelial deposits on the EM, regular subepithelial spike-like projections of
the glomerular basement membrane on the LM, and positive IgG and C3 on the IF, compatible with membranous nephropathy
stage II or III. Two months after starting cyclosporin treatment, her proteinuria improved (spot UP/Cr ratio 0.5-1.0), but complete
remission was not achieved during the following 3 years.
Three years later, her proteinuria started to increase again and worsened (spot UP/Cr ratio 3.5-4.0) despite treatment modification(cyclosporin > tacrolimus). We performed a second renal biopsy to elucidate the cause of the worsening proteinuria. The biopsy
revealed nearly resolved MN but also showed global sclerosis and interstitial fibrosis, compatible with calcineurin inhibitor
toxicity. We then slowly tapered off tacrolimus and started mycophenolate mofetil, but her proteinuria fluctuated, with a spot UP/
Cr ratio of 2.0-5.0. Seven years later, a third renal biopsy was performed to check for the possibility of MN recurrence as a causeof worsening proteinuria (spot UP/Cr ratio 11.0-12.0). The third biopsy showed diffuse loss of foot processes and subepithelial
deposits on the EM, compatible with a recurrence of MN. Anti-PLA2R antibody was negative in the serum but was positive in
the glomeruli on tissue immunohistochemistry. She received two doses of rituximab (375 mg/m2) over 2 weeks.
Point of discussion:
1. What is the clinical role of anti PLA2R antibody in pediatric MN?
2. How can we explain the difference of positivity between tissue and serum anti PLA2R antibody in pediatric MN?
3. Is rituximab effective against pediatric MN?

31

Abstracts

Oral Case Conference[O-5]
Primary lymphatic system dysplasia and atypical hemolytic uremic syndrome coexist in
one child, is there a relationship?
Shan Jian, Zhaoyu Chen, Yaohua Dong, Zhuo Li, Yanyan He, Hongmei Song and Min Wei
Department of Pediatrics, Peking Union Medical College Hospital, China

Backgrounds: Primary lymphatic dysplasia is a congenital maldevelopment, which interferes with function of the lymphatic
system and causes effusion of chyle or lymph. Atypical hemolytic uremic syndrome (aHUS) affects the kidneys but has thepotential to cause multi-organ system dysfunction.
Case: The patient is a 12-year-old girl with intermittent diarrhea since 5 months old and intermittent edema since 3 years old.
She developed pale complexion, edema, oliguria and hypertension at the age of 5, and laboratory tests released HBG 61g/L, PLT
75×10^9/L, ALB 17g/L, ALT 96U/L, AST 78U/L, Cr 119.4umol/L, C3 0.63g/L↓. C4, ANA and ENA were normal. RBC in urine
34.4/ul; 24hUP 0.98g. She was diagnosed as HUS. She got better after symptomatic treatment.
Abdominal pain, diarrhea, edema, oliguria and hypertension reappeared when she was 7. Her Bp was125-134/ 80-90mmHg, andtests showed HGB 61-104g/L, PLT 44-543×10^9/L ,Alb 20.5-27.5g/L; 24hUP 0.27-0.14g. The first renal biopsy was performedin the local hospital, and full-house immunofluorescence staining was seen. Light microscopy and electron microscopy suggested
membranous proliferative glomerulonephritis, but the mesangial hyperplasia was not serious, and the endothelial hyperplasia was
obvious. After adequate prednisone treatment, urine protein turned negative, but abdominal pain and diarrhea persisted.
At the age of 11, the symptom of edema, abdominal pain and diarrhea were aggravated, and capsule endoscopy revealed small
intestinal lymphangiectasia. Lymphatic imaging showed lymphatic dysplasia and protein-losing gastroenteropathies. All thesymptoms including abdominal pain and proteinuria were relieved after thoracic duct exploration and release surgery andmedium-chain triglyceride (MCT) diet was performed.
At the age of 12, abdominal pain, diarrhea, edema, oliguria and hypertension appeared again and gradually become aggravated.
Laboratory tests: ALB 20g/L, Cr111μmol/L, C3 0.680g/L↓; C4, ANA, ENA and ANCA were normal; 24hUP 0.38g; urine BLD
80cells/μL. The second renal biopsy showed membranous proliferative glomerulonephritis with “full-house” immunofluorescencestaining. Heterozygous mutations of CD46 (c.1054del, c.375T>G) were revealed by exome sequencing which is associated with
aHUS, from her parents separately.
Conclusions: Glomerular disease and primary lymphatic dysplasia accompanying develop in this girl, revealing that primary
lymphatic dysplasia could cause glomerular disease. When hypoalbuminemia and proteinuria are not parallel, factors other thankidney should be considered.
Points of discussion:
1. Primary lymphatic system dysplasia and membranous proliferative glomerulonephritis coexist in one child. What is theparticular mechanism?
2. The patient’s C3 was decreased while the other blood immune indexes were negative, and the immunofluorescence staining of
two kidney biopsies were “full-house”, why?
3. Is there any better treatment for this patient?

32

Abstracts

Oral Case Conference[O-6]
Familial juvenile hyperuricemic nephropathy
Jiwon Jung1, Beom Hee Lee1,2, Joo Hoon Lee1, Young Seo Park1
1. Department of Pediatrics,
2. Department of Medical Genetics,
Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

Backgrounds: Autosomal dominant tubulointerstitial kidney disease (ADTKD) are recently defined category of etiology for
CKD. Multiple names have been proposed for these disorders; Medullary Cystic Kidney Disease (MCKD) type 2, Familial
Juvenile Hyperuricemic Nephropathy (FJHN), or Uromodulin – Associated Kidney Disease (UAKD). Mutations with a numberof genes are assumed to be related with this disorder, including UMOD, HNF1B, REN, MUC1. These disease present with
progressive loss of renal function without drug exposure potentially causing tubulointerstitial nephritis, no severe hypertension
during early stages, bland urinary sediment, absent-to-mild proteinuria showing autosomal dominant inheritance. Hypeuricemia
often with gout can begin in childhood before the development of significant renal insufficiency, caused by inappropriately
decreased fractional urate excretion, although they are not always pathognomonic. We report a case of familial hyperuricemic
nephropathy with still unknown genetic etiology.
Case: A 10–year-old male presented with decreased renal function (Cr 1.72 mg/dl, Cystatin C GFR 27.12 mg/ml/1.73 m2) withhyperuricemia (9.7 mg/dl), which was incidently found in the laboratory work up done because of headache. His mother anduncle on his mother’s side both had a history of end stage renal disease (ESRD) supposedly due to hyperuricemic nephropathy.
Patient’s mother first presented with tophi on her toe at age of 13 years old, refusing to go through further evaluation until she
presented with dyspnea and weight gain. When admitted, she presented with anemia (Hb 4.8 g/dl) with hyperuricemia (13.4 mg/dl), andelevated serum creatinine (2.4 mg/dl). Her renal biopsy showed moderate tubular epithelial degeneration and atrophy, speculatedor radiating crystalloid deposits suggestive of urate on polarizing microscope in the tubular lumen, with interstitial fibrosis.
Patient’s mother soon progressed to ESRD the next year, receiving living-related donor kidney transplantation. Patient’s uncle
grew up without symptom, until hyperuricemia (11.8 mg/dl) and elevated serum creatinine (0.8 mg/dl) was detected on the routine
laboratory work up at the age of 4. Renal biopsy showed tubular atrophy and degeneration filled with crystal deposits suggestiveof urate on polarizing microscope with interstitial fibrosis. Under the impression of familial hyperuricemic nephropathy,
presenting as tubulointerstitial nephritis, patient’s uncle were closely followed up, progressing to ESRD in spite of uric acidlowering therapy, and went through peritoneal dialysis from 11 years old until he received cadaveric renal transplantation at thesame year. Under the impression of familial hyperuricemic nephropathy, we performed renal biopsy and urine evaluation. 24
hour urine collection showed uric acid excretion of 187.1 mg/day, fractional excretion of uric acid 8.1 % (normal range < 10%),and urine uric acid/GFR of 0.48 mg/dl (normal range < 0.56 mg/dl) showing normal range of uric acid excretion. However,renal biopsy showed diffuse global glomerular sclerosis with severe chronic tubulointerstitial changes with crystalloid deposits
suggestive of calcium oxalate, favoring the diagnosis of UMOD-related autosomal dominant tubulointerstitial kidney disease.
No other relatives in the pedigree for 3 generation showed hyperuricemia or renal disease except for the 3 patients. Genetic
analysis of the family revealed no pathogenic mutation associated with renal disease except for TTN mutation associated withcardiomyopathy. Patient is currently on close follow up with uric acid lowering medication (benzbromarone) and routine CKD
management.
Conclusions: We report a case of familial hyperuricemic nephropathy with unknown etiology, which presented in the 3 family
members in one family, mostly during the life of 1st decade, with progressive deterioration of renal function with hyperuricemia,
tubulointerstitial damage on renal biopsy, in spite of uric acid lowering medication.
Point of discussion:
1. How can we evaluate the underlying genetic alteration of this family?
2. What is the meaning of TTN mutation?

33

Abstracts

Oral Case Conference[O-7]
ANCA-associated vasculitis with anti-GBM autoantibody positive: a case report
Ke Xu1, Baige Su1, Xuhui Zhong1, Huijie Xiao1, Jie Ding1, Suxia Wang2, Fang Wang1*, Yong Yao1*
1. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
2. Department of Electron microscope, Peking University First Hospital, Beijing 100034, China*Corresponding author: Yong Yao, yaoyong3238@126.com, Fang Wang, wangfangped@163.com

Backgrounds: Renal involvement is common in small-vessel vasculitis. Immunoglobulin A vasculitis is the most common causeof vasculitis in children, and generally has a good prognosis. Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis(AAV) and anti-GBM autoantibody disease are rare in children, with worse prognosis. It is a problem that how to make an earlier
diagnosis and prompt treatment when a child has purpura, acute glomerulonephritis, and also positive for both ANCA and antiGBM autoantibodies.
Case: We report a 2-year-old female with gross hematuria, pale, decreased appetite, fatigue, and purpura on her lower extremities
and right elbow joint. She had no significant oliguria, edema, cough or hemoptysis. The child had a slight runny nose, fever,and twice intermittent unilateral knee pain about two weeks before the onset of disease. Laboratory results in the local hospital
showed decreased hemoglobin, elevated reticulocytes, and normal platelet count. Renal function showed urea 11.78mmo/
L, creatinine 60.7 umol/L, and eGFR 46.75 ml/min∙1.73m2. Urine routine showed positive protein and increased red blood
cells. 24 hours urine protein was 20mg/kg. p-ANCAs were detected in her serum, with MPO-ANCA 129.41RU/ml. Anti-GBM
autoantibodies were also positive of 48.58RU/ml. Complements, ANA and dsDNA were normal. No obvious abnormalities on
the chest radiograph. After 2 weeks of treatment with oral prednisone, gross hematuria disappeared, anemia improved, and there
were no new rashes, no complaints of joint pain. But her urine protein continued to be positive, renal function did not improvesignificantly. On admission to our hospital, physical examination showed normal blood pressure, slightly pale, several old purpuraand mild hepatomegaly. Her sputum contained many hemosiderin-laden macrophages. The kidney pathology showed pauciimmune crescentic glomerulonephritis (4 cellular crescents and 13 fibrocellular crescents in 21 glomeruli), interstitial inﬁltrates,
and tubular atrophy. She was treated with high-dose methylprednisolone and intravenous infusion of cyclophosphamide. The
rituximab was administered for maintenance of remission. She achieved complete remission at 2 months. Prednisone was reduced
and discontinued within 7 months. The eGFR was stable at about 70ml/min∙1.73m2. About one year later, she appeared positiveof MPO-ANCA again, but her anti-GBM antibody was negative. Urine test showed no abnormalities and her renal function was
still stable. After the fourth dose of rituximab was admitted, she was lost to follow-up due to COVID-19. One year after thelast dose of rituximab, she was hospitalized again due to relapse of AAV. Second renal biopsy showed proliferative sclerosing
glomerulonephritis with crescents. Then she was treated with a combination of glucocorticoids and rituximab.
Conclusions: ANCA should be tested in children who were suspected to be "Immunoglobulin A vasculitis", especially those withatypical rash, anemia and elevated serum creatinine. ANCA-positive patients also need to be tested for anti-GBM antibodies. The
clinical manifestations and outcomes of ANCA and anti-GBM autoantibody double-positive patients are diverse. Renal pathology
is essential for them, and their treatment needs to be individualized.
Points of discussion:
1. The child's final diagnosis and possible pathogenesis
2. The best treatment and long-term monitoring of this child34

Abstracts

Oral Case Conference[O-8]
Nephronophthisis: case report of an adolescent girl and up-to-date results of a national
survey in Japanese children
Yusuke Okuda1, Yuko Hamasaki2, Keisuke Sugimoto3, Mika Okutsu4,
Shinya Kon1, Riku Hamada5, Tetsuji Kaneko6, Kenji Ishikura1
1. Department of Pediatrics, Kitasato University School of Medicine
2. Department of Nephrology, Toho University Faculty of Medicine
3. Department of Pediatrics, Kindai University Faculty of Medicine
4. Department of Pediatrics, Tokyo Medical and Dental University
5. Department of Nephrology, Tokyo Metropolitan Children's Medical Center
6. Department of Clinical Research, Tokyo Metropolitan Children's Medical Center

Backgrounds: To detect and diagnose nephronophthisis in early stage is challenging due to being asymptomatic and scantepidemiological information on clinical characteristics in children. Firstly, we present an adolescent girl who developed lifethreatening heart failure owing to kidney failure with undiagnosed nephronophthisis. Secondary, we report clinical characteristicsof nephronophthisis in children by a national survey of pediatric facilities in Japan which was conducted in 2020.
Case: A 14-year-old girl with a chief complaint of dyspnea admitted to our hospital with suspected heart failure. Kidney failure
was detected by a blood test (creatinine 17.1 mg/dL, hemoglobin 4.2 g/dL, urea nitrogen 205.5 mg/dL, HCO3- 15.9 mmol/L).
Because of severe respiratory/heart failure, anuria, and hypertension (182/123 mmHg), continuous venovenous hemodialysis was
initiated. She was diagnosed with nephronophthisis due to multiple kidney cysts and cerebellar vermis hypoplasia. Moreover,
she had short stature and anemia. Although both symptoms were pointed out in an annual school physical examination she
had not visited a doctor. Her general status improved after several weeks of intensive care. However, she faced the following
various disadvantages due to the delay in diagnosis: 1. She had to be hospitalized for a long time. 2. It took a long time to accept
her disease and to choose peritoneal or hemodialysis for maintenance dialysis. 3. There was no option for preemptive kidneytransplant.
Results of the National Survey: We obtained clinical data of 90 children with nephronophthisis. Median age at the first hospital
visit was 8.6 (range: 0-18.3) years. Forty (44%) were female and 61 (68%) had extrarenal complications. The most common
extrarenal complication was the neurological complication (N=39) followed by the ocular complication (N=36). The mostcommon contributor to detecting/suspecting nephronophthisis was kidney dysfunction (N=32) followed by urinary abnormalities(N=20), anemia (N=17) and growth failure (N=12). A typical ultrasound finding of the kidney was high echogenicity (N=68), andcysts were observed only in 31 patients. Representative pathological findings among 64 patients who had a kidney biopsy were as
follows: 45 had tubular dilatation, 36 had tubular basement membrane abnormalities, and 43 had glomerulosclerosis. Fifty eightpatients had a genetic test, of whom 40 had a gene mutation associated with nephronophthisis.
Conclusions: This case may have typical clinical characteristics of nephronophthisis including neurological complication(cerebellar vermis hypoplasia), short stature and anemia in light of the results of the national survey. However, she experienced alife-threatening event and faced various disadvantages due to the delay in detection and diagnosis. To improve the detection anddiagnosis rate, we are trying to establish diagnostic criteria for nephronophthisis which is keenly anticipated.
Points of discussion:
1. Detection of nephronophthisis in early stage is challenging because patients are sometimes asymptomatic until kidney diseaseprogresses and the manifestations are often non-specific even if they are symptomatic.
2. Definitive diagnosis is also difficult. Pathological findings and genetic tests are probably the most reliable diagnostic tools.
However, kidney biopsy is not feasible in some patients because of advanced stage of chronic kidney disease, multiple cysts,
mental retardation, or other reasons. Detection rate of gene mutation is still low.
3. Thus, diagnostic criteria by clinical information are imperative. Our results from national survey will contribute to establishingdiagnostic criteria.
4. In this case, she may have avoided the critical event if she visited a doctor when short stature or anemia was pointed out.
Providing patients with information on clinical characteristics of nephronophthisis will contribute to improving the prognosisof nephronophthisis.
35

Abstracts

Oral Case Conference[O-9]
Can medullary nephrocalcinosis be a specific diagnostic clue to hereditary nephropathy
with COQ8B mutation?
Jiwon M. Lee1*, Jihyun Kim2, Kyung Chul Moon3, Hee Gyung Kang2, Il-Soo Ha2, Hae Il Cheong2,4,5
1. Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea
2. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
3. Department of Pathology, Seoul National University Hospital, Seoul, Korea
4. Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea
5. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea*Corresponding author: jwmleemd@gmail.com

Background: Mutations in the genes related to biosynthesis of Coenzyme Q 10 (CoQ 10, ubiquinone) cause primary CoQ10
deficiency resulting in various clinical phenotypes. A portion of patients with the mutations present with steroid resistantnephrotic syndrome (SRNS), histologically focal segmental glomerulosclerosis (FSGS) in most cases. COQ8B (also known as
ADCK4) has been first reported in association with SRNS in 2013, and previously a Korean cohort has reported six patients,
notably accompanied by medullary nephrocalcinosis in all the six cases.
Case: A 4-year-old girl visited due to incidentally detected proteinuria. The patient was observed with foamy urine for 11 months
but was not edematous. She had no specific family history or past medical history, except that she had been taking herbal medicine
for two years. Laboratory tests showed normal serum albumin (4.1 mg/dL), creatinine (0.39 mg/dL), and complement (C3/C4
107/27 mg/dL) levels. Urine albumin was detected 3+, with a protein/creatinine ratio of 1.75 mg/mg. Urine β2-microglobulinlevel was normal and urine protein electrophoresis showed albumin dominant (77.9%) pattern. Calcium to creatinine ratio
was 0.20 mg/mg at random urine and 0.283 mg/mg at 24-hour-collected urine. Of note, the patient had radiological medullary
nephrocalcinosis.
At that time, hereditary FSGS was suspected in that the patient had persistent proteinuria without nephrotic syndrome, atrelatively early age. In addition, from the phenotype showing medullary nephrocalcinosis without definite hypercalciuria, we
performed a Sanger sequencing for COQ8B. She was found with compound heterozygous (one known, c.737G>A in exon 9; andone novel, c.1507C>T in exon 15) mutations in the gene.
A kidney biopsy showed FSGS, not otherwise specified, with 15.7% global and 7.8% segmental sclerosis. Immunofluorescencestains were all negative. In the electron microscopy, abnormally increased mitochondrial accumulation was found in thecytoplasm of the podocytes.
Within three weeks from her initial visit, the patient was started with coenzyme Q10 replacement starting at 30mg/kg/day. After 4
weeks of CoQ10 supplement, her proteinuria decreased to urine protein to creatinine ratio of 0.9 mg/mg. At the time, the patient
was started with cyclosporine (4mg/kg/day). At last follow-up (at 8 weeks of CoQ10 supplement and 4 weeks of cyclosporine
treatment), her urine protein to creatinine ratio decreased to 0.5 mg/mg and further outcome remains to be seen.
Conclusion: COQ8B-associated FSGS is a rare hereditary nephropathy which can benefit from early diagnosis and CoQ10
supplement. So far, patients with COQ8B mutation reported in South Korea had medullary nephrocalcinosis and this case adds
another. Aberrant mitochondrial accumulation in the cytoplasm of the podocytes was commonly found in patients with primary
CoQ10 deficiency.
Points of Discussion:
1. Is Medullary nephrocalcinosis a common finding in hereditary nephropathy with COQ8B (ADCK4) mutation?
2. Is abnormal mitochondrial accumulation in the cytoplasm of the podocytes diagnostic for FSGS associated with primary CoQ10
deficiency- related nephropathy?
3. Can patients with primary CoQ10 deficiency benefit from calcineurin inhibitors?
4. Pinpointed diagnosis based on clinical suspicion may still be valuable in the era of next generation sequencing (NGS), in its
swiftness and cost-effectiveness.
Keywords: Monogenic nephrotic syndrome, Coenzyme Q 10, COQ8B, focal segmental glomerulosclerosis
36Abstracts

Poster Presentation[P-1]
Analysis of TRPC6 variation in children with steroid-resistant nephritic syndrome
Zhang Yao*, Yu Li, Yu Sheng-You
Department of Pediatrics, Guangzhou First People’s Hospital, China*Corresponding author: lilyzhangyao@163.com

Backgrounds: In recent years, some foreign researchers have screened patients with non-familial nephrotic syndrome and founda total of 7 TRPC6 gene mutations. Most of these patients are resistant to steroid therapy with poor prognosis, and FSGS is themost common pathological change. In this paper, we study the TPRC6 gene variation and its clinical features of children withSRNS in China.
Case: Collected clinical data and peripheral blood of 30 patients with SRNS and 30 healthy children from South China area.
Extracted genomic DNA. Amplified all exons of TRPC6 gene by PCR, detected DNA sequences and then compared with NCBI
gene database. Analyzed statistically the difference of gene distribution between SRNS group and healthy group. No significant
mutation in the TRPC6 gene was detected in two groups; Single nucleotide polymorphisms: 423C>T, in exon 7 of TRPC6 wasdetected in 3 children with SRNS. The difference of SNP distribution between two groups was not significant (P>0.05).
Conclusion: TRPC6 single nucleotide polymorphisms (423C>T)in exon7 was not associated with the pathogenesis of SRNS inchildren.
Points of discussion: Our study is exclusive screening of possible pathogenic genes, and no TRPC6 gene mutation was detected
in 30 children with SRNS. At present, most commonly used research method in the world is the whole genome scan. In addition,
most of the known FSGS-related functional variants are found in exons. Therefore, whole genome sequencing or whole exon
sequencing is an effective method to study the pathogenic gene mutations of FSGS. Through these methods, we hope to have a
deeper understanding of the pathogenesis of FSGS.

37

Abstracts

Poster Presentation[P-2]
Sphingomyelin phosphodiesterase acid-like 3b (SMPDL3b) mediates TLR3 signaling inhuman podocytes
Shojiro Watanabe*, Takao Karasawa, Shun Hashimoto, Hidenori Umetsu, Riko Sato,
Masashi Fujita, Tomomi Aizawa, Koji Tsugawa and Hiroshi Tanaka
Department of Pediatrics, Hirosaki University, Japan*Corresponding author: swat4028@yahoo.co.jp

Backgrounds: Viral infections often trigger relapses or exacerbation of glomerular diseases in children. Since innate immune
system, including Toll-like receptor 3 (TLR3) signaling exists in human podocytes, dysregulation of antiviral responses
is postulated as one of the causes of proteinuria, however, detailed mechanisms remain to be examined. Sphingomyelin
phosphodiesterase acid-like 3b (SMPDL3b), a lipid modifying enzyme in the cell membrane, is reported to be expressed onhuman podocytes and possibly engaged in the pathogenesis of glomerular diseases, such as focal segmental glomerulosclerosis(FSGS), diabetic kidney disease (DKD), radiation nephropathy (RN) and idiopathic nephrotic syndrome (INS). Although
SMPDL3b reportedly acts as an immunemodulater of macrophages by altering the cell membrane fluidity, its role in podocyte
innate immunity remains to be elucidated. In this study, we, therefore, examined whether SMPDL3b plays a role in TLR3
signaling in human podocytes.
Methods: Conditionally immortalized human podocytes were treated with polyinosinic-polycytidylic acid (poly IC), an authentic
viral double-stranded RNA, to activate TLR3 signaling. Expression of raftlin, TRIF, IRF3, IFN-β and CXCL10 were examinedby reverse transcription quantitative real-time polymerase chain reaction, western blotting, and enzyme linked immunosorbent
assays. The cells were also subjected to small interfering RNA (siRNA) against SMPDL3b.
Results: Poly IC induced each targeted molecule in podocytes. Knockdown of SMPDL3b decreased poly IC induced raftlin/
TLR3/TRIF/IRF3/INF-β axis in human podocytes.
Conclusions: SMPDL3 is required for poly IC induced TLR3 signaling in human podocytes. Alteration of SMPDL3b expression
may influence antiviral response in human podocytes.
Points of discussion: We need further study for,・The mechanism which alters the expression of SMPDL3b in human podocyte.
・Clinical implication of the results for pediatric glomerular diseases. How about the relation between abnormal TLR3 signaling
and dysregulation of the cytoskeleton in podocytes in patients with INS.
・Lipid biology of podocyte cell membrane, especially for lipid raft as the entrance of cell signaling.

38

Abstracts

Poster Presentation[P-3]
Association of podocyte lesions with novel CUBN gene mutations in three isolated
proteinuric children
Jing Yang, Linxia Deng, Liru Qiu, Yu Zhang, Jianhua Zhou*
Tongji Hospital, Tongji Medical college, Huazhong University of Science and Technology, jiefang Ave. No. 1095, Wuhan 430030, China*Corresponding author: jhzhou99@qq.com

Background: Mutation of CUBN gene may lead to Imerslund-Gräsbeck Syndrome (IGS), clinically characterized bymegaloblastic anemia with or without proteinuria. Up till now, isolated proteinuria with podocyte lesions have never beenreported, here, we reported three patients with isolated renal manifestation caused by CUBN gene mutations and pathologicallypresented with podocyte lesions.
Method: Three patients with isolated proteinuria were assessed clinically and biopsied to find the renal pathological changes.
Whole exome sequencing was applied to detect gene mutation, and the pathogenicity of gene mutations were analyzed
accordingly.
Results: Three patients presented with isolated proteinuria, no megaloblastic anemia, and normal renal function. Their renal
pathologies all showed podocyte lesions, which was not reported previously in CUBN gene mutated patients. Patient 1 and patient
2 shared a same missense mutation (c.9287T>C, p.L3096P) in one allele of CUBN gene with a more serious mutation in anotherallele. A splice-site mutation(c.122+1G>A) was found in patient 1, and a nonsense mutation (c.7906C>T, p.R2636*) in patient2, they were consistent with compound heterozygous mutation. A homozygous nonsense mutation (c.10233G>A, p.W3411*)
was found in patient 3. Except for intron splice-site mutation, the other mutations are located in highly conserved sites of CUB
domain. The location of the missense mutation in CUB domain suggests that they may affect the binding of albumin to cubilin,
resulting in proteinuria. Protein modeling also showed that missense mutations could change the spatial structure of cubilin, thus
affected protein function.
Conclusion: Our cases demonstrate that CUBN gene mutation may not only cause isolated proteinuria but also podocyte lesions
in children.
Points of discussion:
1. The significance of CUBN gene mutation in children with isolated proteinuria
2. The treatment and prognosis of CUBN gene mutation in children with isolated proteinurian

39

Abstracts

Poster Presentation[P-4]
Genotype-phenotype correlations in pediatric patients with HNF1B mutations
Seon Hee Lim1, Ji Hyun Kim2, Jungsue Kim3, Kyoung Hee Han 4, Hee Gyung Kang1, Il-Soo Ha1, Yo Han Ahn1 and Hae Il Cheong5
1. Department of Pediatrics, Seoul National University of Children’s Hospital, Seoul, Korea
2. Department of Pediatrics, Bundang Seoul National University Hospital, Seongnam, Korea
3. Department of Pediatrics, Cheongju St. Mary’s Hospital, Cheongju, Korea
4. Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea
5. Department of Pediatrics, Hallym University Hospital, Anyang, Korea

Background: HNF1B (hepatocyte nuclear factor-1β) is one of the most common disease-causing genes of congenital anomaliesof the kidney and urinary tract (CAKUT), especially renal cysts. HNF1B mutations also manifest various renal and extra-renal
phenotypes such as MODY5, hypokalemia, hypomagnesemia, hyperuricemia, and so on. Faguer S, et al. proposed HNF1B
scoring system in 2014 to screen patients with HNF1B mutations clinically.
Cases: We analyzed the genotype-phenotype correlations in 14 pediatric patients with HNF1B mutations. Genetic studies
revealed total gene deletion in six patients (43%). All patients had bilateral renal abnormalities, primarily multiple renal cysts.
Twelve patients exhibited progressive renal functional deterioration, and six of them progressed to kidney failure. The annual
reduction in estimated glomerular filtration rate was 2.1 mL/min/1.73 m2. Diabetes developed in five patients (36%), including
one patient with new-onset diabetes after transplantation. Neurological deficits were noted in three patients (21%), one withtotal gene deletion and two with missense mutations. Pancreatic abnormalities were more frequent in patients with missense
mutations than in patients with other types of mutations. Genotype showed no significant correlation with renal outcomes or otherextrarenal manifestations. The HNF1B scores at the times of onset and genetic diagnosis were <8 in two patients and one patient,
respectively.
Conclusions: HNF1B mutations manifest various renal and extra-renal phenotypes. Most patients (86%) progressed to CKD or
ESRD during follow up. The HNF1B scoring system showed high sensitivity, although specificity was not evaluated. Because
the HNF1B scores increased with age due to later development of extra-renal manifestations, a serial follow-up of the score isneeded.
Points of discussion: Modified scoring system by addition of other phenotypes (polycythemia, choledochal cyst, etc) is needed
for more accurate diagnosis and monitoring of long term prognosis and risk of malignancy.

40

Abstracts

Poster Presentation[P-5]
The Clinical and Genetic Heterogeneity of Chinese Children with TTC21B
Mutation Caused Nephronophthisis-Related Ciliopathies
Lei Sun1#, Jing Zhang1#, Xin-yu Kuang1, Chen-hui Huang2, Yu-lin Kang1, Wen-yan Huang1*
1. Department of Nephrology and Rheumatology, Shanghai Children’s Hospital, Shanghai Jiaotong University, Shanghai, 200062, PR china
2. Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200125, PR china#These authors contributed equally to this work.
*Corresponding author: hwy65@hotmail.com

Backgrounds: The TTC21B gene was initially described as causative of nephronophthisis-related ciliopathies (NPHP-RC). To
investigate the clinical and genetic character of Chinese children with TTC21B mutations caused NPHP-RC, we reported six
Chinese paediatric cases with end-stage renal disease (ESRD).
Case: The six cases all had early-onset proteinuria and abnormal renal function. Two of them presented with situs inversus.
Median age at the onset of renal impairment was 22 (range, 10-48) months. All patients progressed to ESRD within a medianof 10 (range, 2-84) months after the onset. Renal pathology revealed glomerular sclerosis with tubulointerstitial lesions in all 3
patients who were performed kidney biopsy. The TTC21B gene mutation was detected in 6 children, among which 2 patients whoare sister and brother carried compound heterozygous mutation (c.1552T>C and c.1231C>T), and 2 patients who are brother andsister carried compound heterozygous mutation (c.1552T>C and c.1675-1G>T), and 1 patient carried mutation c.1552T>C andc.1327C>G, and 1 patient carried mutation c.1552T>C and c.530delA. Collectively, the mutation site of c.1552T>C had highdetection in all 6 patients which was predicted to be disease-causing. Three novel disease-causing TTC21B mutations (c.16751G>T, c.1327C>G, c.530delA) were identified. For further verification, immunohistochemistry was performed for TTC21B,
tubules and glomeruli expression were negative in all 3 patients who were performed kidney biopsy.
Conclusions: Mutations in TTC21B cause a range of NPHP-RC phenotypes. The onset age is relatively small and the time
progressed to ESRD is short. Glomerular sclerosis with tubulointerstitial lesions is a main pathology type. Though all 6 patients
carried compound heterologous mutation, the site of c.1552T>C was found in every patient. The site of c.1552T>C may bemutation hotspot of in Chinese population, and under further functional study.
Points of discussion:
1. Increasing the recognition of NPHP-RC. Physicians rarely encounter this disease in daily medical practice, and only a small
number of pedigrees have been reported.
2. The precise diagnosis of NPHP-RC. The primary clinic feature of NPHP-RC was early-onset proteinuria and abnormal renal
function. Renal biopsy revealed Glomerular sclerosis with tubulointerstitial lesions. But there were non-specific. Now genetesting is playing an important role in NPHP-RC diagnosis. Early and correct diagnosis will ensure proper patient monitoring.

41

Abstracts

Poster Presentation[P-6]
A Novel Compound Heterozygous Mutation in LAMB2Gene in a Chinese Boy With Isolated Proteinuria
Ling Hou, Yubin Wu, Zhao Chengguang and Yue Du*
Department of Pediatric Nephrology, Shengjing Hospital of China Medical University, China*Corresponding author: duy@sj-hospital.org

Backgrounds: Laminin β2 is a component of laminin-521, which is an important component of glomerular basement membrane.
Mutations in laminin β2 (LAMB2) cause either Pierson syndrome or congenital nephrotic syndrome with or without ocular andneurodevelopmental deficits, which is designated nephrotic syndrome type 5 (NPHS5) by Online Mendelian Inheritance in Man(OMIM #614199). The genotype-phenotype correlation often varies greatly in clinical experiences. We hereby report a novelcompound heterozyous mutation in LAMB2 gene, associated with a mild phenotype presentation.
Case: This is a 9-month-old boy, with a 2-week history of foamy urine. At the physical examination on admission, his condition
was well with no signs of edema or neurological abnormalities. Laboratory tests showed a normal CBC count and normal serum
albumin level (40.4g/L). The proteinuria was 2+ and the ratios of urinary proteinuria/creatinine ranged from 2.66 (g/g) to 3.26(g/g) which indicated a nephrotic range proteinuria. The serum creatinine and blood urea nitrogen were normal (18.6 μmol/Land 1.64 mmol/L, respectively). Ophthalmic examination did not indicate strabismus, retinopathy, or microcoria. Urinalysis andrenal ultrasound results of her parents were negative. Renal biopsy was not performed. At a 3-month follow up, the proteinuria
was still 2+ with normal albumin level and serum creatinine. Trio-based whole genome sequencing indicated a novel compound
heterozygous mutation in the LAMB2 gene (c.5389T>C [p.Cys1797Arg] and c.3595C>T [p.Arg1199stop, 600]) which wereverified in his parents.
Conclusions: We here describe a novel compound heterozygous mutation in the LAMB2 gene causing a mild phenotype
presentation with isolated nephrotic range proteinuria. This new mutation expands the genotype-phenotype spectrum.
Points of discussion:
1. LAMB2 mutations were previously found to be consistently associated with the severe phenotype of Pierson syndrome,
our report expands the spectrum of LAMB2-associated disorders to isolated proteinuria with no ocular changes and normal
development.
2. Functional studies needed to reveal the mechanism of the mutation in our patient with isolated proteinuria.

42Abstracts

Poster Presentation[P-7]
A PKD1 and SLC36A2 mutation in pediatric patient withpolycystic kidney and nephrocalcinosis
Jeong Yeon Kim1, Beom Hee Lee2, Heeyeon Cho1
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
2. Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea

Backgrounds: PKD1 mutation is well known causative gene in autosomal dominant polycystic kidney disease (ADPKD).
Solute carrier 36 member 2 (SLC36A2) encode pH-dependent proton coupled amino acid transporter. SLC36A2 mutation shows
autosomal and digenic recessive inheritance. Clinically SLC36A2 mutation is associated with iminoglycinuria and hyperglycinuria
which can be presented asymptomatically or with other symptoms: hypertension, glycosuria, nephrolithiasis, mental retardationand etc.
Case: A 3-year-old girl came to the hospital due to incidentally found multiple renal cyst with multiple bright echogenic focisuggesting medullary calcinosis in ultrasonography (US). Her mother was diagnosed as polycystic kidney disease at her twenties,
renal insufficiency aggravated after delivery of patient and intermittent hemodialysis was initiated at her early thirties. No otherfamily member had polycystic kidney disease. The patient did not showed hematuria nor proteinuria and there was no renal
insufficiency. The laboratory results were as follow: white blood cell 7010/uL, hemoglobin 13.4g/dL, platelet 275,000/uL,
albumin 4.7g/dL, BUN 12.4mg/dL, Creatinine 0.42mg/dL, uric acid 4.3mg/dL, calcium 7.9mg/dL, phosphorus 5.2 mg/dL, total
bilirubin 0.4 and spot urine protein/creatinine ratio 0.22. As the patient and her mother were detected to have multiple renal cysts
at a young age, in combination of medullary calcinosis in patient, we suspected possibility of unusual mutation or co-existenceof second mutation. For this reason, we did whole genome sequencing and the patient was identified to have the heterozygous
mutation c.G4609T in exon 15 of PKD1 (p.E1537X) and heterozygous mutation c.91_94A on SLC36A2 at chromosome 5,
nonframeshift substitution. As result, she was diagnosed as having ADPKD with possibility of having iminoglycinuria or
hyperglycinuria. She was tested for aminoaciduria and prolinuria was detected which might be suggestive of co-existence ofhyperglycinuria. Therefore, for further evaluation, we are planning to test for amino acid and organic acid level in serum andurine sample.
Conclusions: We report a first case of pediatric patient with polycystic kidney disease caused by PKD1 with co- exist SLC36A2
mutation.
Point of discussion:
1. What clinical manifestations are possible in our patients?
2. Whether or not SLC36A2 mutation affect renal function deterioration?
3. When should we consider genetic test in ADPKD patients?
Key words: PKD1, SLC36A2, APDKD, aminoaciduria

43

Abstracts

Poster Presentation[P-8]
A novel de novo truncating TRIM8 mutation associated with childhood-onset focal
segmental glomerulosclerosis without epileptic encephalopathy
Yoko Shirai1, Kenichiro Miura1, Naoto Kaneko1, Kiyonobu Ishizuka1, Amane Endo2,
Taeko Hashimoto3, Shoichiro Kanda4, Yutaka Harita4, Motoshi Hattori1*
1. Department of Pediatric Nephrology, Tokyo Women’s Medical University, Tokyo, Japan
2. Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan
3. Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
4. Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan*Corresponding author: hattori@twmu.ac.jp

Backgrounds: Heterozygous truncating mutations in the Tripartite motif 8 (TRIM8) gene have been reported to cause epileptic
encephalopathy, both with and without proteinuria. A recent study showed a lack of TRIM8 protein expression, with suppressorof cytokine signaling 1 (SOCS1) overexpression, in podocytes and tubules from a patient with a TRIM8 mutation, who presented
with epileptic encephalopathy and focal segmental glomerulosclerosis (FSGS). To date, no patients with TRIM8 mutations who
presented with nephrotic syndrome but without neurological manifestations have been described.
Case: An 8-year-old girl presented with nephrotic syndrome, without epilepsy or developmental delay. Her kidney biopsy
specimens showed FSGS and cystic dilatations of the distal tubules. Whole-exome sequencing identified a novel de novo
heterozygous mutation in the C-terminal encoding portion of TRIM8 (c.1461C>A), resulting in a premature stop codon(p.Tyr487*). The locus of the truncating mutation in the present case (p.Tyr487*) was closest to the C-terminal end thanmutations in other reported cases. Reverse transcription-polymerase chain reaction using peripheral blood mononuclear
cells identified the mRNA sequence of the mutant allele, which confirmed an escape from nonsense-mediated mRNA decay.
Immunofluorescence studies showed a lack of TRIM8 expression in glomerular and tubular cells and cystic dilatation of distal
tubules. Immunohistochemical studies showed overexpression of SOCS1 in glomerular and tubular cells.
Conclusions: We reported a case of FSGS, associated with a de novo heterozygous TRIM8 mutation, without any neurologicalmanifestations. Our results expanded the clinical phenotypic spectrum of TRIM8 mutations.
Points of discussion: Among the previously reported cases and our case, proteinuria tended to be documented in individuals
featuring TRIM8 mutations that affected regions closer to the C-terminal end of the TRIM8 protein. Moreover, our case presented
with nephrotic syndrome but without any neurological manifestations and the locus of TRIM8 mutations was closest to the
C-terminal end among reported cases. These findings suggest that there may be genotype-phenotype correlations.
The mechanism underlying proteinuria and the cystic dilatation of tubules observed in this case remains unknown. Previous
studies suggest that strong SOCS1 expression can inhibit cytokine signaling and attenuates the progression of glomerular
and tubulointerstitial injury via JAK/STAT pathway, which is contrary to our results. More studies are needed to clarify thepathogenesis of nephrotic syndrome caused by TRIM8 mutations.

44

Abstracts

Poster Presentation[P-9]
Mutations in TTC21B in two siblings with young childhood
onset cause different phenotypes in China
Rong Liping, Zhou Min, Pei Yuxin, Mo Ying, Jiang Xiaoyun*
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University*Corresponding author: jxiaoy@mail.sysu.edu.cn

Backgrounds: The TTC21B gene is now known as causative of nephronophthisis related ciliopathies and it is also classified as
NPHP type 12. Two siblings pediatric cases confirmed by mutations of TTC21B were reported, one with end-stage renal disease
and the other one present an insidious onset with moderate proteinuria and normal renal function.
Methods: The clinical features of the two cases were summarized. Mutation analysis of the TTC21B gene was performed using
next-generation sequencing.
Results: Case 1 a 5-year-old boy, was admitted to hospital with chief complaint "abdominal pain more than 2 weeks, pale for 1
week and shortness of breath for 1 day", presenting renal failure, malignant hypertension, moderate anemia, hypoalbuminemia,
moderate proteinuria, hypercoagulability and extrarenal manifestation of abnormal liver function (elevated level of GGT).
The renal function failed to recover under the intensive treatment of CRRT, plasma exchange and control of hypertension. The
subsequent renal pathology revealed glomerular sclerosis (100%, 12/12), vascular changes like thrombotic microangiopathy, renal
interstitial fibrosis with mononuclear cells infiltration. Peritoneal dialysis was conducted subsequently after diagnosis of CKD 5
stage. WES indicated two compound heterozygous mutations in exon 4 from TTC21B (c.264_267dupTAGA, p.E90X; c.380C>T,
p.A127V), which were derived from the parents. Renal transplantation was performed 10 months later and renal function get
normal.
Case 2 was the 3-year-old sister of Case 1 in insidious onset with moderate proteinuria and hypertension stage 1
presenting normal renal function and no extrarenal manifestations. Sanger sequencing found one heterozygous mutation(c.264_267dupTAGA, p.E90X) and one homozygous mutation (c.380C>T, p.A127V) both in exon 4 from TTC21B. No renal
biopsy was performed. Fosinopril was administered to reduce proteinuria and control blood pressure. Proteinuria maintained 2+
and blood pressure as well as renal function stayed normal in the follow-up period of 10 months.
Conclusion: Mutations in TTC21B cause a range of ciliopathy phenotypes in humans. We identified 2 novel TTC21B mutations
in two Chinese pediatric cases in two siblings that presented in different manifestations including ESRD and moderate proteinuria.
Renal transplantation was effective.
Points of discussion:(1) The clinical manifestation and renal pathology of case 1 was not consistent with literature reports on NPHP type 12 result
from TTC21B mutations, so what’s the role of TMA acted in this patient? (2) The causal relationship among TMA, malignant
hypertension, renal failure in patients with TTC21B mutations.

45

Abstracts

Poster Presentation[P-10]
Exercise-induced acute kidney injury in an adolescent boy with a mutationof SCL22A12 gene causing renal hypouricemia
Erika Imura, Tae-Sun Ha
Department of Pediatrics, Chungbuk National University, College of Medicine, and Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Korea

Backgrounds: Hereditary renal hypouricemia is an autosomal recessive genetic disorder characterized by impaired tubulartransport, reabsorption insufficiency and/or accelerated secretion of uric acid. Currently, there are two subtypes of genetic renal
hypouricemia; type 1, loss-of function mutations in the SLC22A12 gene encoding urate transporter 1 (URAT1) and type 2, lossof function mutations in the SLC2A9 gene encoding the facilitative glucose transporter 9 (GLUT9). Most of these patients areclinically asymptomatic and are detected incidentally, but some have nephrolithiasis or hematuria or are predisposed to exerciseinduced acute kidney injury (EIAKI).
Case: An otherwise healthy 16-year-old adolescent boy visited our hospital with general weakness, nausea, and both flank pain
after long walks and recreation during the school retreat. His parents denied any illness, inflammatory prodromes or any drug
ingestion prior to exercising. There was no family history of muscle disorders or renal diseases. On physical examination, hisblood pressure was 139/82 mmHg and physical examination was entirely unremarkable except for a lethargy and both flank pain.
There was no muscle swelling or tenderness. The laboratory evaluation revealed the following results: elevated serum creatinine(3.94 mg/dL) and urea nitrogen (28.5 mg/dL), potassium 4.7 mmol/L, serum creatine kinase 667 U/L and low fraction excretionof sodium (0.6%), therefore, we hydrated him for the suspected pre-renal AKI. Urinalysis was clear and showed no significant
findings. Renal ultrasound showed only mild increased parenchymal echogenicity in both swollen kidneys and renal vasculature
was normal. With 11 days of intensive fluid therapy, his creatinine levels improved gradually to 1.08 mg/dL. However, we foundthat his serum uric acid levels were low from 2.2 mg/dL at renal failure stage to 0.9 mg/dL after renal improvement. Fraction
excretion of uric acid was as high as 55 %. Thereby, we did genotyping of SLC22A12 to detect causal genetic defect of renal
hypouricemia and found that he has a gene mutation in p.R90H and p.W258 of SLC22A12. Recently, he has no symptoms andserum creatinine level is normal (1.03 mg/dL), however, uric acid level is still very low (0.7 mg/dL).
Conclusions: We presented a boy with EIAKI by severe renal hypouricemia caused by genetic mutation of SLC22A12 gene.
Points of discussion:- Are there clinical differences between the mutations of SLC22A12 and SLC2A9 genes?
- The pathophysiologic mechanisms leading EIAKI in children with renal hypouricemia.
- General method to prevent EIAKI in children with renal hypouricemia.

46Abstracts

Poster Presentation[P-11]A case of focal segmental glomerulosclerosis (FSGS) in an infant in whom
hepatic fibrosis were observed and mutations in TTC21B were identified
Ryoko Harada1, Riku Hamada1*, Koki Tomari2, Hayato Togashi1, Takashi Honda1, Kazushi Agata1, Asako Kageyama1,
Ayumi Shimizu1, Keiji Akamine1, Chikako Terano1, Naoya Morisada3,4, Kandai Nozu4, Kentaro Ogata5,
Kazumoto Iijima4, Masataka Honda1, Hiroshi Hataya1
1. Department of Nephrology Tokyo Metropolitan Children’s Medical Center, Tokyo Japan
2. Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center & Children's Medical Center
3. Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Japan.
4. Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
5. Department of Diagnostic Pathology, Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital, Japan*Corresponding author: riku_hamada@tmhp.jp

Backgrounds: The TTC21B gene encodes a intraflagellar transport (IFT) protein, which is a transport mechanism along
microtubules inside the cilium, and is known as causative gene of nephronophthisis-related ciliopathies (NPHP-RC).
Additionally, in recent years, it has also been reported that TTC21B gene is involved in the podocyte formation and responsible
for FSGS. We describe a case of progressive kidney dysfunction and hepatic fibrosis that developed concurrently in an infant
whose histopathological diagnosis was FSGS with widespread tubulointerstitial lesions, and in whom mutations in TTC21B wereidentified with genetic testing.
Case: A 3-month-old boy was hospitalized with a urinary tract infection. Laboratory tests showed heavy proteinuria (urinary total
protein [uTP]/creatinine [Cr] 12 g/gCr), hypoalbuminemia (3.2 g/dL) and abnormal kidney function (sCr 0.33 mg/dL). Subsequently,
at the age of 1 year, kidney biopsy was performed due to prolonged heavy proteinuria. At the timing of the kidney biopsy, he was
hypertensive (135/81mmHg) without edema. Laboratory results demonstrated hypoalbuminemia (2.9g/dL) and kidney dysfunction(sCr 0.54 mg/dL, eGFR 47 mL/min/1.73m2). Pathological findings of the kidney biopsy revealed 46 glomeruli including 16 global
sclerotic glomeruli. FSGS was diagnosed in the presence of 5 focal segmental sclerotic glomeruli and foot process effacement.
Approximately 50% of the tubulointerstitial compartment showed infiltration of inflammatory cells, with tubular atrophy andhypertrophic dilation in the proximal tubule were also observed. Based on these findings in the tubules, the possibility of NPHP-RC
was also discussed, however these findings were judged to be a secondary change due to progressive glomerular injury. In addition,
liver dysfunction (AST 60 U/L, ALT 28 U/L) and elevation of specific markers of hepatic fibrosis were detected (Procollagen III
peptide 128 ng/mL [normal range: 3.62-9.52 ng/mL], Type IV collagen 7S 7.3ng/mL [normal range: < 6.0 ng/mL] and Mac-2 binding
protein glycosylated isomers 1.44 C・O・I [normal range: < 1.00 C・O・I]). Ultrasonography of the liver suggested ductal platemalformation. We suspected genetic FSGS due to lack of edema together with concomitant hepatic fibrosis. Therefore, we obtained
genetic testing, which detected compound heterozygous mutations of TTC21B (c.379G>A, p.Ala127Thr / c.2992_2994delAGA,
p.Arg998del). This patient finally progressed to kidney failure (sCr 2.59 mg/dL, eGFR 12 mL/min/1.73m2) at the age of 1year and 10
months. He is currently undergoing maintenance therapy with peritoneal dialysis.
Conclusions: Mutations in the TTC21B gene cause both genetic FSGS and NPHP-RC. Our case presented heavy proteinuria,
hypertension and hepatic fibrosis, which means he had both clinical features of FSGS and NPHP-RC. When patients with FSGS
have other organ involvement, especially the liver, genetic testing of the NPHP should be considered.
Points of discussion: We concluded that the interstitial lesions in this case were secondary to glomerulopathy, and made thediagnosis of FSGS. On the other hand, there is another interpretation that considers this interstitial lesion as the main pathology
and FSGS changes as secondary to it. This leads to a diagnosis of NPHP-RC. The fact that the TTC21B gene is listed as the
responsible gene for both FSGS and NPHP-RC makes the decision more difficult. We hope to discuss how to interpret anddiagnose such a case based on the pathological findings.
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Abstracts

Poster Presentation[P-12]A case of Gordon syndrome with a CUL3 mutation presented with short stature
Ji Hong Park1, Hee Gyung Kang1, Il-Soo Ha1, Hae Il Cheong1, Yo Han Ahn2
1. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
2. Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea

Background: Gordon syndrome, also known as pseudohypoaldosteronism type II, is a rare tubular disease characterized byhypertension, hyperkalemia, and metabolic acidosis. Currently, four causative genes for Gordon syndrome have been identified:
CUL3, KLHL3, WNK1 and WNK4. Patients with CUL3 mutations tend to have earlier onset age and more severe symptoms thanthose with mutations in other genes. Here we report the first Korean case of Gordon syndrome with a CUL3 mutation presenting
with short stature.
Case report: A 7-year-old boy visited our hospital because of persistent hyperkalemia with metabolic acidosis, which were
initially detected during the evaluation of short stature. He was born at gestational age 36 weeks with birth weight of 1680 g (<3rdpercentile). He had complained of recurrent vomiting and decreased oral intake. Physical findings showed high blood pressure(128/60 mmHg), growth retardation (height <3rd percentile, body weight <3rd percentile), and severely decayed teeth. Laboratory
findings revealed hyperkalemia (6.8 mEq/L) with low trans-tubular potassium gradient, metabolic acidosis with normal anion
gap, and low plasma renin level. Endocrine function test results were normal, including thyroid function, adrenal function, andgrowth hormone stimulation. Genetic analysis revealed a heterozygous de novo mutation in the CUL3 gene (c.1377+1G>C in
intron 8). After thiazide treatment, his blood pressure and serum electrolyte became normal, and his gastrointestinal symptoms
improved. However, he had not achieved catch-up growth until the last follow up at the age of 9 years.
Conclusions: In children presenting with both hypertension and hyperkalemia, Gordon syndrome should be considered as it is the
only hypertensive disease with hyperkalemia. Electrolyte imbalance and hypertension can be controlled using low-dose thiazide
therapy. Early diagnosis and treatment of Gordon syndrome may improve prognosis and reduce complications.
Points of Discussion:
1. What is the cause of the patient’s growth retardation?
2. Why does his growth not improve after correcting metabolic acidosis and hyperkalemia?

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Poster Presentation[P-13]
Two male relatives with OFD1 mutations
Takuzo Wada1*, Yuko Shima1, Yu Tanaka1, Hironobu Mukaiyama1, Naoya Morisada2,
Kandai Nozu2,Kazumoto Iijima2, Koichi Nakanishi3
1. Pediatrics, Wakayama Medical University, Japan
2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
3. Department of Pediatrics, Graduate School of Medicine, University of Ryukyus, Nishihara, Japan*Corresponding author: takuzo0715@gmail.com

Backgrounds: Oral-facial-digital syndrome type 1 (OFD1) is an X-linked recessive ciliopathy characterized by oral, facial,and digital malformations with polycystic kidney and central nervous involvement caused by OFD1 mutations. This disease isgenerally considered embryonic lethal for hemizygous male. Advances in genetic analyses have made possible the definitive
diagnosis of nephronophthisis-associated ciliopathies, which were difficult to diagnose because of the overlapping clinicalmanifestations and the involvement of many genes. Here we report two male relatives with OFD1 mutation based on a family
history of male end-stage-kidney-disease (ESKD).
Case 1: A 2-year-old boy was referred to our hospital for the detailed inspection of bilateral kidney enlargement with high intensity
found by chance abdominal ultrasonography performed at the time of enteritis. His eGFR was reduced to 62.2ml/min/1.73m 2,
but his urinary findings were normal. His renal function gradually declined and started peritoneal dialysis at the age of 4. He
displayed a speech delay, autistic features with hyperactivity and short stature for his age (-3.0SD). He also had a family historyof male ESKD accumulation. One of his maternal older uncles had ESKD and died at the age of 9. The other maternal younger
uncle also had ESKD and a kidney transplant (Case2).
Case 2: Case 2 was referred to our hospital for the detailed inspection of slight proteinuria pointed out by school screening
program and decreased renal function at the age of 13 years old. He had obesity, borderline intellectual disability, and micropenis.
He underwent a renal transplantation at the age of 14 and had long been clinically diagnosed with Bardet-Biedl syndrome. He is
now 30 years old, but had repeatedly suffered from urinary tract infections in the transplanted kidney due to the vesicoureteral
reflux of fecalurea from a cystorectal fistula since the age of 23, and finally resumed hemodialysis.
Their pedigree indicated an X-linked dominant ciliopathy, so their mutations were analyzed by direct sequencing of OFD1 andsame OFD1 mutation was identified in the two cases.
Conclusions: These cases were not embryonic lethal for male patients and showed different physical constitutions and distinct
periods to ESKD without OFD1 malformations despite of the same mutation.
Points of discussion: Accurate genetic diagnoses add new information to the existing disease comprehensions. Why did theyshow different physical constitutions and distinct periods to ESKD with same OFD1 mutation?

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Poster Presentation[P-14]A case with Proteinuria and Renal biopsy findings resembling Fabry disease
Han Geul Kim, Kee Hyuck Kim, Jeong Hae Kie
Departments of Pediatrics and Pathology, NHIS Ilsan Hospital, Goyang, Korea

Background: The presence of myeloid bodies in electron microscopy is a characteristic finding of Fabry disease. Certain drugs,
such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in Fabry disease, characterizinga type of drug-induced renal phospholipidosis.
Case: A 17 year old boy presented subnephrotic proteinuria for 2 year. His renal biopsy findings suggested the coexistenceof focal segmental glomerulosclerosis (FSGS) with a fibrocellular crescent and Fabry disease, because of the presence of
Zebra bodies in electron microscopy. Crescent is very rare finding in FSGS, even though it is a morphologic finding as aresult of parietal cell injury in various renal disease. However, Fabry disease was excluded as a diagnosis finally, because the
α-galactosidase A activity and genetic test were normal.
Certain cationic amphiphilic drugs, such as amiodarone and chloroquine, can produce renal deposits that mimic morphologicalfindings seen in Fabry disease. Atomoxetine (Strattera®), taken for ADHD management over a period of 12 month until 5 years
before renal biopsy, was the only cationic amphiphilic drug taken by our patient.
Atomoxetine (Strattera®) has not yet been reported as a cause of renal phospholipidosis.
Conclusion: Clinical investigation is necessary in suspected cases of Fabry Disease upon renal biopsy in order to confirm
diagnosis. Drug-induced renal phospholipidosis should be considered in differential diagnosis in cases with intracellularosmophilia, lamellar inclusions in electron microscopy.

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Abstracts

Poster Presentation[P-15]A HNF1B-related disorders: two cases in JapaneseShinichi Shiona1*, Yoshitsugu Kaku2, Takuro Ohno1
1 Department of Pediatrics, Oita Prefectural Hospital, Japan
2 Department of Nephrology, Fukuoka Children’s Hospital, Japan*Corresponding author: 99046ss@jichi.ac.jp

Backgrounds: Hepatocyte nuclear factor 1B (HNF1B) was reported as the responsible gene of maturity onset diabetes of theyoung 5 (MODY5), and the mutations is also known as a cause of congenital anomalies of the kidney and urinary tract. HNF1B
gene mutations exhibit various phenotypes, and it is also different in renal prognosis every case.
Case: Case1 is 1 year 1 months old, boy. He presented with renal dysfunction during the neonatal period. Mild enlarged
echogenic kidneys with poor corticomedullary differentiation and microcysts are detected by ultrasonography. He was suspected ofhaving autosomal recessive polycystic kidney disease. He is chronic kidney disease (CKD) stageG3, Cr-eGFR is 30 ml/min/1.73m2.
Case2 is 1 year 3 months old, boy. He had right multicystic dysplastic kidney (MCDK), left renal hypodysplasia (RHD) withsevere renal dysfunction after birth. His renal function declined further, BUN 118.2 mg/dL, Cr 2.57 mg/dL, Cr-eGFR 11.1 ml/
min/1.73m2 at 1 year 2 months old. He was introduced to peritoneal dialysis at 1 year 3 months old. His mother was diagnosed
with diabetes and chronic renal failure at 10 year old.
Conclusions: HNF1B heterozygous mutation was detected by genetic analysis of case1 and case2. Case1 was identified de novo
mutation, as his parents were not detected the mutation. In case2, his mother was also detected the mutation. She was diagnosed
with MODY5.
Points of discussion: Bilateral RHD, unilateral MCDK and contralateral RHD were at high risk for CKD, and they may have
HNF1B mutations. HNF1B-related disorders are required management from childhood to adulthood. It is very important tosharing information among pediatrician and physician.

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Poster Presentation[P-16]A case report of hereditary renal tubule dysplasia with anemia
Xiaoyuan Wang, Fang Wang and Jie Ding*
Department of Pediatrics, Peking University First Hospital, Beijing, China*Corresponding author: djnc_5855@126.com

Backgrounds: Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized bycontinual fetal anuria and perinatal death. ACE gene mutations are most common in this disorder. Nearly all patients required
peritoneal dialysis for the first days or weeks of life. We report a Chinese girl who carried two truncated variants of ACE gene.
Case: The patient was an 11-month-old female, the first child of nonconsanguineous parents. She was evaluated for chronic
anemia and fatigue. Laboratory studies revealed a hemoglobin level of 70 g/L, and serum creatinine of 122umol/L (eGFR=22.9ml/
min/1.73m2), serum uric acid level was 428 µmol/L. Urine specific gravity frequently was low and α1-microglobulin (α1-MG) was
high (150mg/L). Kidney ultrasound (US) showed increased echogenicity, normal sized kidneys and a loss of corticomedullary
differentiation. During pregnancy, the mother was healthy. Birth weight was 2,900 grams and height was 50 cm, appropriate for
gestational age. This patient showed growth slowly after the first 6 months. At presentation, her height and weight were 71 cm and6.8 kg. Two heterozygous nonsense mutations were identified in ACE gene (NM_000789.3) in this patient. Exon 5 was carrying aheterozygous nucleotide substitution c.793C>T (p.Arg265* ) , which was inherited from her mother, and in addition a paternallyinherited heterozygous nonsense mutation c.1028G>A (p.Trp343*) was found in exon 7.
Conclusions: Inherited renal tubular dysgenesis may not be universally fatal and even patients with the same variants haveinconsistent disease severity.

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Poster Presentation[P-17]
Alport syndrome overlapping with IgA nephropathy: a case report
Min Li, Youjing Xu, Hongrong Lin, Wei Han, Sijin Wang, Liangzhong Sun*
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515,China.
*Corresponding author: sunlzh2018@smu.edu.cn

Backgrounds: Alport syndrome overlapping with IgA nephropathy may aggravate the manifestation and the prognosis.
Case: Patient 1, female, 12 years and 9 months old. Urine protein (+) and RBC (2+) were found on physical examination at theage of 1-year. And nephritis was diagnosed after dark urine turn out during her getting a cold at the age of 1 year and a half, andthen steroids was administered. Her urine protein fluctuated (-) ~ (+) and BLD (+) ~ (3+). At the age of 12 years and 8 months,
she was found to have eyelids edema. Urine protein was 3+ and RBC 3+. Serum albumin 38.8 g/L, creatinine 41 umol/L .
Renal biopsy: Diffused mild to moderate mesangial proliferation without crescent or glomerular sclerosis. Immunofluorescencestaining: IgG 1+, IgM2+, IgA 2+, C3±, C1q (-). The staining of collagen α1, α3 and α5 chains were unspoilt. Electron
microscopy: Glomerular basement membrane (GBM) segmentally thinned, uneven thickness and delamination were occasionallyobserved, and a small amount of electron dense deposition was observed in mesangial. IgA nephropathy (Lee’s grade: III) was
diagnosed without the exception of Alport syndrome. Small dosage of prednisone with mycophenolate mofetil and benazepril
were administered. Urine protein turned out to be (1+) and RBC 20-24/ul several months later. Her eyesight and hearing were
unimpaired at present.
Patient 2 is the elder brother of patient 1. Microscopic hematuria and proteinuria emerged at his age of 3 years after respiratory
tract infection. Urine BLD was (3+) and protein (+/-) ~ (2+). Renal biopsy performed at his age of 4 years, which showed amild mesangial proliferative glomerulonephritis, Immunofluorescence staining of IgA, IgG, IgM, C3 and C1q were all negative.
GBM was normal by electron microscopy. Electron dense deposits in the mesangial region was observed. After that, steroids,
tacrolimus, mycophenolate mofetil, and cyclosporine were all tried without apparent effect. Urine protein fluctuated (+) ~ (2+)
and RBC 260~1716/ul. Hearing degressive was found at the age of 11. He entered end stage renal disease at the age of 15 withserum creatinine 1588 mmol/L.
Urine tests were normal both of their parents.
Genetic sequencing: A heterozygous variation of COL4A5, C. 2395+1G>C, was identified both in the brother and sister.
Bioinformatic analysis showed that the variation is pathogenic. The variation derived from the mother who showed no urinary
aberrant.
Conclusions: Overlapping with IgA nephropathy may aggravate Alport syndrome. Immunoinhibiting therapy showed
effectiveness. Would immunoinhibiting therapy improve the prognosis of the compound diseases deserves more studies.
Points of discussion:
1. Is the severe manifestation of patient 1 compared with her mother who carried the same COL4A5 variation attributed to theoverlapping of IgA nephropathy?
2. Would the improvement after receiving immunosuppressant therapy in patient 1 indicated a better prognosis?

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Poster Presentation[P-18]A Case of Autosomal Recessive Alport Syndrome with Acute Kidney Injury
on Lisinopril medication
Daisuke Nakanishi1, Wataru Shimabukuro1, Kazuya Hamada1, Shougo Nakada1, Masatsugu Uehara2,
Shigeru Fukuyama2, Tomoo Kise2, Kandai Nozu3, Kazumoto Iijima3, Noriko Kinjo1, Koichi Nakanishi1*
1. Department of Pediatrics, Graduate School of Medicine, University of the Ryukyus, Japan
2. Division of Pediatric Nephrology, Okinawa Prefectural Nanbu Medical Center-Children’s Medical Center, Japan
3. Department of Pediatrics, Kobe University Graduate School of Medicine, Japan*Corresponding author: knakanis@med.u-ryukyu.ac.jp

Backgrounds: Alport Syndrome (AS) is a progressive hereditary glomerular disease caused by mutations in genes encoding type
Ⅳ collagen protein constituting glomerular basement membranes. X-linked AS (XLAS) accounts for about 80% of AS patients.
About 70% of male patients with XLAS progress to end-stage renal disease (ESRD) by the age of 30. On the other hand, female
patients with XLAS generally progress slowly but vary in severity. About 15% cases follow an autosomal recessive pattern ofinheritance, and both males and females with autosomal recessive (ARAS) progress to ESRD during their second decades of life.
Approximately 5% of patients are autosomal dominant AS (ADAS) and follow relatively good prognosis, but about 20% of them
progress to ESRD in their 50s or 60s.
Case: The patient is a 9-year-old girl. Family history shows asymptomatic hematuria in her mother and maternal grandmotherand urinary stones in her father, but urine findings are normal. There is no family history of renal dysfunction or dialysis within
the second degree. She had hematuria and proteinuria 4 months after her birth, and underwent renal biopsy at the age of five, andwas diagnosed as Alport syndrome. She was referred to our department for the management of renal impairment (eGFR 75.9
ml/min/1.73m2), increasing urine protein-to-creatinine ratio (uP/Cr) from 0.6 to 1.8 g/gCr when she was 7 years old. She wastreated with ACE inhibitor lisinopril 5 mg/day [0.14 mg/kg/day]. We used next generation sequencing (NGS) and found out she
had heterozygous mutations of COL4A3 exon 26 c.1855G>A p.Gly619Arg (from mother) and COL4A3 exon 51 c.4793T>G
p.Leu1598Arg (from father), and identified ARAS. After one year of treatment, laboratory tests showed Cr 0.65, eGFR 74.3
and uP/Cr 0.27, her renal function was stable. One month before admission, uP/Cr increased to 0.46 and lisinopril was raised
to 10 mg/day [0.26 mg/kg/day]. A few days before admission, she had fever with symptoms of a common cold. After fever had
subsided, she was found looking pale in shower and was transferred to our emergency department. Laboratory tests showed BUN
31, Cre 0.99, and eGFR 52.4, and indicated acute kidney injury. We stopped lisinopril administration and started infusion, herrenal function was restored to BUN 11, Cre 0.68 and eGFR 73.8 on the 5th day of hospitalization.
Conclusions: We diagnosed this case as ARAS by NGS. Since her father's urine findings were normal, NGS was useful indistinguishing this case from XRAS. It is important to recognize that heterologous pathogenic variant may cause normal urine
findings. In recent years, the administration of RAS blockade has been recommended for Alport syndrome. However, since RAS
inhibitors easily cause dehydration and acute kidney injury, adequate life guidance is needed.
Points of discussion: Why the father with pathogenic variant doesn't have any urine symptoms? When patients should stop
medication in sick day?

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Poster Presentation[P-19]
Study on the timing of renal biopsy in Alport syndrome
Yusuke Hiyoshi1, Ayuko Zaitsu1, Kenichiro Miura2, Eriko Tanaka3, Masayuki Ishihara4, Yoshinobu Nagaoka5,
Rika Fujimaru6, Kazuki Tanaka7, Yuji Kano8, Riku Hamada9, Seiji Tanaka1*
1. Department of Pediatrics, Kurume University Hospital
2. Department of Nephrology and Pediatrics, Tokyo Women's Medical University
3. Department of Pediatrics, Kyorin University School of Medicine
4. Department of Pediatric and Adolescent Medicine, Kochi University School of Medicine
5. Department of Pediatrics, Sapporo Medical University Hospital
6. Department of Pediatric Medicine Center, Osaka City General Hospital
7. Aichi Children's Health and Medical Center
8. Department of Pediatrics, Nasu Red Cross Hospital
9. Tokyo Metropolitan Children's Medical Center*Corresponding author: tanaka_seiji@kurume-u.ac.jp

Introduction: Alport syndrome is characterized by hematuria in infancy, hearing loss in the teens, and ocular symptoms in the
20s and 30s.Renal function begins to decline over time in the late teens, and many male patients develop end-stage renal failure
between the ages of 10 and 30.Renal biopsy is performed based on proteinuria and family history of renal failure, but it is difficult
to determine the timing of renal biopsy in cases of hematuria alone with family history or without family history of renal failure,and detection may be delayed. We examined the difference in severity of the disease in genes and physical findings for early
detection.
Methods: A questionnaire survey was conducted at nine institutions regarding gender, urine analysis abnormalities, hearing
abnormalities, indications and timing of renal biopsy, and genetic mutations in 39 Alport syndrome cases diagnosed from April 1,2013 to March 31, 2019.
Results: There were 17 boys and 22 girls. Median age of onset of hematuria was 3 years (0 months-9 years). 67% had a family
history of renal disease, of which 13% had familial hematuria. Family history of renal failure was 38%. and 10% had Alport
syndrome. The median age of kidney biopsy was 7.5 years in children with a family history of renal disease and 5 years inchildren without a family history of renal disease. Genetic testing was performed in 62% of cases and all were X-linked, 23% of
which had de novo mutations. In comparison was made between de novo and non-de novo mutations. The median age of onsetof hematuria was 22 and 37 months, the median age of renal biopsy was 3 and 7.5 years, and the male ratio was 22% and 60%.
Ophthalmologic examination was performed in 51% of the cases, with ophthalmologic abnormalities in 5% of the cases, one atbirth and the other at age 3 years. Hearing test diagnosed hearing loss in 23% of the children, and the median age of hearing loss
diagnosis was 10 years and 6 months. Hearing loss was also observed in 3% of hematuria cases with a family history of hematuria
alone.
Conclusion: Biopsy of de novo mutations was performed at an early age, probably because of the presence of proteinuria in allcases. Therefore, even in the absence of a family history, early renal biopsy should be considered in patients with proteinuria andhematuria under 3 years of age.
If there is a family history of asymptomatic hematuria, otolaryngology and ophthalmology should also be considered.

55

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Poster Presentation[P-20]A case with familial short - rib thoracic dysplasia with or without polydactyly
Jiwon Jung1, Beom Hee Lee1,2, Joo Hoon Lee1, Young Seo Park1
1. Department of Pediatrics,
2. Department of Medical Genetics,
Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

Backgrounds: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletalciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearanceof the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune
syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome(MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ byvisceral malformation and metaphyseal appearance. Non-skeletal involvement can include cleft lip, palate as well as anomaliesof major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. We present a case of short-rib
thoracic dysplasia siblings first presented with end stage renal disease and growth retardation, later with chronic hepatitis of
unknown etiology, diagnosed with gene mutation.
Case: A 4–year-old male presented with anemia (Hb 3.5 g/dl) and decreased renal function (Cr 11.5 mg/dl, BUN 218 mg/dl).
Renal biopsy at admission showed diffuse interstitial fibrosis and tubular atrophy with focal global glomerular sclerosis of
unknown etiology. He started on peritoneal dialysis, underwent two times of herniorrhaphy, and admitted repeatedly due torecurrent peritoneal dialysis catheter malfunction or peritonitis until he received cadaveric kidney transplantation at the age of
17. His growth was severely retarded, reaching 120 cm, 20 kg at the time of transplantation. Patient showed stunned growthof thoracic cage which was severely narrow compared with his age. Tracheal cartilage calcification and multiple calcified rib
cartilages were prominent at the age of 14. He underwent liver biopsy with cholecystectomy at 16 years of age due to gall bladder
hematoma and persistent liver enzyme elevation including gamma glutamyl transpeptidase (γGT) elevation (370 – 680 IU/L) andmild hyperbilirubinemia (total bilirubin 2.0 mg/dl, direct bilirubin 1.9 mg/dl). Liver biopsy showed chronic hepatitis of unknown
etiology. His older sister also first presented with anemia (Hb 4.4 g/dl), vomiting, and decreased renal function as ESRD at the ageof 4. Initial kidney biopsy showed chronic sclerotic glomerulonephritis without deposits on electron microscope. She underwent
cadaveric donor kidney transplantation at the age of 7, but restarted peritoneal dialysis after 8 years due to rejection and graft
failure. Her growth stopped since she was 12 years old, reaching 148 cm. Liver biopsy was done at the age of 19 due to persistentelevation of liver enzyme without significant cholestasis, showing chronic hepatitis and severe loss of bile duct. She sufferedfrom two times of retinal detachment requiring surgery. Whole exome sequencing revealed a pathogenic heterozygous variant(c.2650C>T (p.Arg884Trp)) and another heterozygous variant (c.4309G>A (p.Glu1437Lys)) of IFT140 gene from both patients.
Patient’s mother revealed wild type sequence regarding the same gene sequence, ant patient’s father was unable to contact due todivorced status. The presumed genetic diagnosis was accordant with their clinical phenotype, and both patients are on supportive
management with routine follow up.
Conclusions: We report a case of sibling presented with end stage renal disease in early childhood, short ribs with shore stature,and chronic hepatitis in their teenage, found with IFT140 mutation suggesting the diagnosis of short-rib thoracic dysplasia with orwithout polydactyly.
Discussion point: Is the diagnosis SRTD9 (IFT140 mutation) appropriate for the siblings?

56

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Poster Presentation[P-21]
Wilson’s disease in a child with nephrotic syndrome:a case report and literature review
HuiQin Zhou, Fang Deng*
AnHui Provincial Children’s Hospital, China*Corresponding author: 17730006762@163.com; dengfang1997@126.com

Background: Wilson’s disease (WD) is an inherited disorder in which defective biliary excretion of copper leads to its accumulation,
particularly in the liver and brain. Primary nephritic syndrome (PNS) is a familiar disorder in children. Cases with concomitant WD and kidneydisease, unrelated to treatment with penicillamine, have been rarely reported.
Case presentation: We report a case of a young child who had typical edema and laboratory tests results of PNS. His symptoms relieved
completely after prednisone treatment. During follow up of tapping steroid, the boy had liver function injury. The biopsy confirmed Copper
deposition in renal tubules and foot process fusion in podocyte. Hence, we considered the diagnosis of PNS concomitant with WD.
Conclusion: Wilson’s disease and PNS have varied clinical manifestations. Herein, we reported a rare case in which the two conditions
concomitantly existed. In clinical practice, differential diagnosis of the two diseases is necessary for patients with hepatic and renalmanifestations.
Points of discussion: In this case, Edema at age 2years, NS typical manifestations: massive proteinuria, hypoproteinemia and hyperlipidemia,
Consideration of NS, Identification of hepatitis B virus associated nephritis, Lupus nephritis and purpura nephritis after the exclusion ofcommon secondary diseases, Consideration of PNS, After oral administration of prednisone and methylprednisolone, Edema and proteinuria
quickly relieve hormone sensitivity. During the follow-up of the child, the liver function was gradually abnormal, NS there's no explanation
for liver dysfunction during treatment, On further examination, it was found that copper blue protein decreased significantly (0.0395 g/L<0.1
g/L), Serum copper decreased (5.83 umol/L<10.50 umol/L), Copper staining of renal tissue: a large number of coarse brown-yellow granules
were found in some renal tubular epithelial cells, Urinary copper abnormalities (150 ug>100 ug,24 hours ULN 1-2), refer to European Societyfor Hepatology 2012(European Association for the Study of the LiverEASL) HLD Diagnostic Scoring System in the Guide to Clinical Practice
The child's current score is 4≥4.Further improvement of renal pathology in children suggested slight glomerular lesions, segmental fusion of
podocytes (25%<), combined with clinical consideration of the changes of podocytes after hormone therapy. The NS symptoms of this patient
appeared earlier than HLD liver damage. Combined with the history, auxiliary examination, therapeutic effect and renal biopsy results, the liver
damage was HLD after the PNS. At present, the children with low copper diet and zinc tablets were reduced to low dose maintenance, urine
protein continued to be negative, liver function returned to close to normal, and the related indexes were further followed up.
All in all, HLD clinical symptoms and signs involve hematuria, proteinuria, edema as the first symptom of hepatolenticular degeneration is rare,
we should pay attention to the identification of primary glomerular diseases, easy to cause misdiagnosis and missed diagnosis. When faced withnephrotic HLD and PNS complications HLD, renal biopsy should be further improved to assist in differential diagnosis, which is related to the
choice of clinician treatment. Can avoid the side effects of immunosuppressants such as hormones, and PNS combined with hormone combinedwith copper drive treatment.
The references[1]G R Thomas,P C Bull,E A Roberts,J M Walshe,D W Cox,Haplotype Studies in Wilson Disease ,Am. J. Hum. Genet,1994 Jan;54(1):71-78.
[2]A B Shah, I Chernov,KPetrukhinet al.Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies,
Genotype-Phenotype Correlation, and Functional Analyses,Am. J. Hum. Genet. 1997 Aug;61(2):317-28.
[3]X L Yang ,N Miura, Y Kawarada,et al. Two Forms of Wilson Disease Protein Produced by Alternative Splicing Are Localized in Distinct
Cellular Compartments,1997 Sep 15;326 (Pt 3)(Pt 3):897-902.
[4] de Bie P, Muller P, Wijmenga C, et al. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular
defects and disease phenotypes [J].J Med Genet, 2007, 44(11): 673-688.
[5]Abuduxikuer K, Li LT, Qiu YL, et al. Wilson disease with hepatic presentation in an eight-month-old boy [J]. World J Gastroenterol, 2015,21(29):8981-8984.
[6]Dedoussis GV, Genschel J, Sialvera TE, et al. Wilson disease: high prevalence in a mountainous area of Crete[J]. Ann Hum Genet, 2005, 69 (3): 268-274[7] European Association for Study of Liver, EASL Clinical Practice Guidelines: Wilson's Disease, Journal of hepatology,2012 Mar;56(3):671-85.
[8]Wang H, Zhou Z, Hu J, et al. Renal impairment in different phenotypes of Wilson disease [J]. Neurol Sci, 2015, 36(11): 2111-2115[9] Sozeri E, Feist D, Ruder H, et al. Proteinuria and other renal functions in Wilson's disease [J]. PediatrNephrol, 1997, 11(3):307-311[10] M. Farallo, C. Amoruso, C. Frattini,etal.Sindromenefrosica da penicillaminain uncasopediatrico di Morbo di Wilson,Ped. Med. Chir. (Med.
Surg. Ped.), 2012, 34: 234-236.
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Poster Presentation[P-22]
Withdrawn58

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Poster Presentation[P-23]A case of primary hyperoxaluria diagnosed
by urine gas chromatography / mass spectrometry
Junichiro Araki1*, Yoriko Watanabe1,2 and Seiji Tanaka1
1. Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
2. Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Japan.
*Corresponding author: araki_jyunichirou@med.kurume-u.ac.jp

Backgrounds: Primary hyperoxaluria (PH) is a rare disease of inherited autosomal recessive disorder. PH is characterized byoverproduction of oxalic acid due to impaired glyoxylic acid metabolism, that causes ureteral stones. PH is usually diagnosed bya marked increase in urinary oxalic acid. PH is classified into three types according to metabolic pathway. We report a newborncase with primary hyperoxaluria type2 (PH2) diagnosed by urine gas chromatography / mass spectrometry (urine GC/MS).
Case: 10-month-old girl was delivered at 40 weeks gestation (birth weight: 2,848g). She is the first child of healthy nonconsanguineous parents, and no family history of ureteral stones is reported. Expanded new born screening, including tandem
mass spectrometry, detected no abnormalities. Urinary glyceric acid was detected by urine GC/MS on the 5th day after birth. We
retested urine GC/MS at 1,5,8 months after birth. Both showed a slight increase in urinary glyceric acid. at the age of 10 months,
a renal stone was detected at the right side by abdominal ultrasound. Her milestones were normal limits, and no abnormalities
were found on general blood tests.
Conclusions: Urine GC/MS is a noninvasive and useful test for early diagnosis of PH.
Points of discussion: Usually, PH is diagnosed by a marked increase in urinary oxalic acid. However, determination of oxalic
acid in urine is difficult, and urine collection in acidic condition is essential. PH1 and PH2 are able to distinguish with excretionof glycolic acid and glyceric acid by urine GC/MS respectively. PH2 has only 6 reports in Japan. Ureteral stone in children havefew symptoms, rarely 1 in 100,000. Pediatric ureteral stone require close examination with metabolic disorders in mind.

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Poster Presentation[P-24]A case of Russell-Silver syndrome born in the phenotype ofPotter sequence and renal malformations
Hye Ran Ko1, Hyeon Ju Lee2, Kyoung Hee Han3
1. Jeju National University School of Medicine, Jeju, Korea
2. Department of Pediatrics, Jeju National University Hospital, Jeju, Korea
3. Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea

Backgrounds: Russell-Silver syndrome (RSS) is a congenital condition characterized by stunted growth. One genetic causeof RSS is abnormal methylation of the H19 and IGF2 genes located in chromosome 11p15. Another cause of RSS is maternal
uniparental disomy on chromosome 7. These genes play a role in controlling normal growth. The classical diagnostic criteria
of RSS are intrauterine growth retardation (IUGR) combined with continued growth failure with no catch up, triangular facewith a small jaw and a pointed chin, normal head circumference, and skeletal asymmetry. Renal manifestations of RSS include
horseshoe kidney, renal tubular acidosis, hydronephrosis, ureteropelvic obstruction, vesicoureteral reflux and Wilms’ tumor.
We report here a rare case of RSS with Potter sequence who developed oligohydramnios, IUGR and renal malformations during
the fetal and neonatal periods.
Case: A 34-year-old woman, gravid 2, para 2, was transferred to our hospital at 25 6/7 weeks of pregnancy with oligohydramnios,and her fetus was severely growth restricted and had no visible kidney in right renal fossa. We antenatally diagnosed the fetus
with Potter syndrome.
At 35 4/weeks of pregnancy, a cesarean section was performed because of fetal breech presentation. A female newborn wasdelivered weighting 1340g with cleft palate and the shortening of left lower leg.
Her Apgar scores were 5 at 1 min and 8 at 5 min after birth. Soon after birth, she was noted to have tachypnea with SpO2 valuesof 50%, the nasal continuous positive airway pressure (CPAP) was applied in the neonatal intensive care unit. She was intubatedendotracheally and received an artificial pulmonary surfactant and high-frequency oscillatory ventilation (HFOV) was applied
to her because she gradually increased oxygen demand and the increased hazziness of both lung and pneumomediastinum were
found on chest X-ray. Laboratory findings on hospital day 3 were as follows: white blood cell (WBC), 15,800/µL (segmental
neutrophil 46%, lymphocyte 36.3%); hemoglobin, 15.4 g/dL; hematocrit, 42%, platelets (PLT) 308,000/µL; albumin, 3.2 g/dL;
total protein, 5.3 g/dL; total bilirubin, 5.9 mg/dL; aspartate aminotransferase, 38 IU/L, alanine aminotransferase, 8 IU/L; bloodurea nitrogen, 32.3 mg/dL; creatinine (Cr), 1.9 mg/dL; sodium, 136 mmol/L; potassium, 5.8 mmol/L; calcium, 9.0 mg/dL;
phosphorus,8.6 mg/dL; uric acid, 5.0 mg/dL; and PTH, 289.6 pg/ml. Kidney ultrasonography revealed that right kidney wasno visible and left kidney was hypoplastic with the size of 2.09 and rotational variation in left renal fossa. Hip X-ray showed
the ossific nucleus of femur head was not seen the shortening of left femur. Hip ultrasonography showed the deficient bonyacetabulum with the alpha angle of 46° during stress in left hip joint suggesting developmental dyplasia of the hip (DDH).
She was confirmed with Potter sequence with chronic kidney disease and DDH, but her urination was good andpneumomediastinum was gradually improved. On hospital day 6, she received synchronized intermittent mechanical ventilationfrom HFOV. On hospital day 7, ventilator was weaned off. The azotemia was stationary without renal replacement therapy andthe oral intake increased, and the patient was discharged at 3 months of age and the body weight of 2.72 kg.
At 24 months of age, her weight gain was insufficient without catch up growth, and then genetic testing was performed. H19differentially methylated region (DMR) hypomethylation was found, and RSS was confirmed.
Conclusions: The newborn with RSS present a potter phenotype with IUGR at birth and can be accompanied by renalmalformation and CKD. If the patient has poor catch up growth and shows asymmetric extremities, the genetic test is required forthe diagnosis of RSS.
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Poster Presentation[P-25]A case of cyclic vomiting syndrome with persistent strong hypertension
Hidetoshi Go1, Tamaki Morohashi1*, Kimitaka Nakazaki1, Shoichi Shimizu1, Shori Takahashi2, and Ichiro Morioka1
1. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan
2. Itabashi Chuo Medical Center, Tokyo, Japan*Corresponding author: morohashi.tamaki@nihon-u.ac.jp

Background: Cyclic vomiting syndrome is characterized by recurring attacks of intense nausea and vomiting, with predictably
cyclical timing of the episodes, and the complete resolution of symptoms between attacks. During an attack, the levels of
adrenocorticotropic hormone (ACTH) and antidiuretic hormone (ADH) are elevated, and hypertension is common when cortisol
and ACTH levels are elevated1). However, no study has investigated the relationship between hypertension and water balance.
Case: A 4-year-old boy with vomiting and poor oral intake visited our hospital and was admitted. On admission, he had
hypertension (blood pressure 147/89 mmHg) and drowsiness. A blood test revealed high levels of ACTH (337 pg/mL), ADH(40.9 pg/mL), cortisol (50.3 mcg/dL), epinephrine (146 pg/mL), and aldosterone (274 pg/mL). Electroencephalography;
chest, abdominal, and pelvic contrast-enhanced computed tomography; head magnetic resonance imaging; and123
I-metaiodobenzylguanidine scintigraphy tests did not yield any abnormal results. Ambulatory blood pressure monitoring(ABPM) for 24-h showed daily fluctuation and elevation in the systolic blood pressure up to 231 mmHg. Treatment for
hypertension was initiated with the administration of an antihypertensive with nicardipine. On the third day of the attack, thewater balance of the total water intake with urinary output became biggest in a plus, and hyponatremia was detected. The attack
subsided on the fifth day. The water balance got the maximum by a minus balance with much urination after the attack had
subsided. The attacks lasted about 4 days and were recurred approximately every 10 days. All the examinations were normal, andno evidence of hypertension was observed in the interictal period.
Conclusion: It has been said that syndrome of inappropriate secretion of ADH (SIADH) does not cause high blood pressure. In
our case, there was a sudden change in the water intake and output throughout the duration of the attack. We considered that body
fluid retention might be related to blood pressure and investigated blood pressure change from a point of the water balance. Highblood pressure with the attack was detected, and the water balance increased to positive. The blood pressure gradually decreased
with an antihypertensive, but the water balance was at a maximum level on day 3 of the attack. The body fluid retention andhyponatremia, which might be symptoms of SIADH, showed a peak on day 3 of the attack. ABPM in the attack period detected achange in the blood pressure that could not be explained by the changes in the circulating plasma volume. Thus, the mechanismof hypertension in this syndrome was not related to body fluid retention, such as that in SIADH, but was related to an abnormal
reaction of the autonomic nervous system2). Moreover, a dynamic change in circulating plasma volume and serum sodium levels
occurred during the attack period. It was concluded that scrupulous attention should be paid to the management of water balance,
including infusion therapy, in patients with this syndrome, even if blood pressure is normal.
Points of discussion: Is hypertension during a cyclic vomiting syndrome attack correlated with water balance?
References:
1) Lagman-Bartolome AM, Lay C. Pediatric migraine variants: a review of epidemiology, diagnosis, treatment, and outcome.
Curr Neurol Neurosci Rep. 2015; 15: 34.
2) Donnet A, Redon S. Cyclic vomiting syndrome in children. Curr Pain Headache Rep. 2018; 22: 30.

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Poster Presentation[P-26]
Long-term outcome of Bartter syndrome
Naye Choi1, Hyewon Park2, Il-Soo Ha1, Hae Il Cheong1, Hee Gyung Kang1
Departments of Pediatrics,
1. Seoul National University Children's Hospital & College of Medicine, Seoul Korea
2. Jang’s Women’s Hospital, Seoul, Korea

Backgrounds: Bartter syndrome (BS) is a rare salt-wasting tubulopathy characterized by hypokalemia, metabolic alkalosis,
hyperreninemia and hyperaldosteronemia. Patients also present polyuria, failure to thrive, and nephrocalcinosis. Chronic kidneydisease (CKD) might develop in BS as well. Potassium and/or sodium supplements, potassium sparing diuretics and NSAIDS
are treatment options for BS. While presenting symptoms and initial management of BS are relatively well known, long-term
outcome and treatment are rarely studied. In this study, we investigated clinical findings of adult patients who were diagnosed
with BS in their early childhood.
Cases: Five adult patients (M:F 1:4, median age 24 [range 19-40]) with BS are managed at our center. They were diagnosed
as BS at their median age of 0.5 years (range 0.08-3) with chief complaint of growth retardation (n=4) and sweating (n=1). All
the patients had severe hypokalemia, metabolic alkalosis, and high renin/aldosterone levels at presentation. Four patients havehomozygous or compound heterozygous mutations in the CLCNKB gene, and in one patient genetic diagnosis was not obtained.
Median follow-up was 20 years (range 12-20) and all patients were treated with potassium supplement for median durationof 19.15 years (range 17.6-20). Spironolactone was prescribed for median 12.7 years (range 4-18) for all patients and it was
switched to amiloride in three (median treatment duration 9.3 years (range 2-13.7)). Indomethacin was used in three patients andcelecoxib was used in one patient. At the last visit, all the patients were taking potassium supplement (equivalent to 28~240mg/kg
of K, median 66mg/kg) and potassium sparing agents (Amiloride [n=1] or spironolactone [n=2]), however, none of patients wastaking NSAID. Despite these treatments, their serum potassium was 2.8 mmol/L (range 2.3-3.2). Estimated GFR (eGFR) was lessthan 60 mL/min/1.73 m2 in one patient. Nephrocalcinosis was observed in two patients. Their height was median 19 percentile,
with one patient less than 3 percentile.
Conclusion: Among these five adult BS patients, three patients had growth deficit, one had impaired renal function, and two
had nephrocalcinosis. All patients showed hypokalemia even though they were treated with potassium supplements, potassium
sparing diuretics and NSAIDs. Large-scale studies are needed to understand the long-term outcome of this condition.

Point of discussion: What are the risk factors of chronic kidney disease in BS? Does nephrocalcinosis or NSAIDs precipitate
chronic kidney disease?

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Poster Presentation[P-27]
Involvement of activated cytotoxic T lymphocytes and natural killer cells
in Henoch–Schönlein purpura nephritis
Takashi Imai1*, Kei Nishiyama1, Kenji Ueki2, Tamami Tanaka1, Yoshitsugu Kaku3, Toshiro Hara4, Shouichi Ohga1
1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
2. Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
3. Department of Pediatric Nephrology, Fukuoka Children's Hospital, Fukuoka, Japan
4. Kawasaki Disease Center, Fukuoka Children's Hospital, Fukuoka, Japan.
*Corresponding author: itakasi@pediatr.med.kyushu-u.ac.jp

Background and Objectives: Henoch–Schönlein purpura (HSP) is a major cause of vasculitis in children. It is often
accompanied by nephritis (HSPN) and could progress to chronic kidney disease. Galactose-deficient IgA1 was recently reported
to be involved in the pathogenesis of HSPN, for which immunosuppressive drugs are considered key treatment. However, theinvolvement of immune cells in the development of HSPN remains unclear. In this study, we investigated the involvement of
immune cells in the development of HSPN.
Methods: We compared gene expression profiles of peripheral blood mononuclear cells (PBMCs) during the acute stage of thedisease among healthy controls, HSP patients, and HSPN patients under 15 years of age. Immunohistochemistry analysis and flow
cytometry were performed to assess renal biopsy specimens and PBMCs, respectively. Serum CX3CL1 levels were measured byenzyme-linked immunosorbent assay.
Results: GNLY and GZMB expressions increased in HSPN patients, consistent with increased number of glomerular granulysinand/or granzyme B-positive cells demonstrated by immunohistochemistry analysis. Additionally, circulating cytotoxic T
lymphocytes (CTLs) and natural killer (NK) cells were activated with the up-regulated surface expressions of human leukocyte
antigen-DR (HLA-DR) and CX3CR1 in HSPN patients with severe proteinuria. Renal biopsies demonstrated increased numberof CD8+ cells and/or CD56+ cells and up-regulated expression of glomerular CX3CL1, a specific ligand for CX3CR1, along withincreased serum CX3CL1 level.
Conclusions: Activated CTLs and NK cells play roles in the development of nephritis in HSP patients and can be used as novel
biomarkers for HSPN with severe proteinuria.

63Abstracts

Poster Presentation[P-28]
MYH9 associated disorders with the onset of Henoch- Schönlein
purpuric nephritis: a case report
Jingyi Wu, Lizhi Chen, Xiaoyun Jiang*
Pediatric department, the First Affiliated Hospital of Sun Yat-sen University*Corresponding author: jxiaoy@mail.sysu.edu.cn

Backgrounds: Henoch-Schönlein purpura (HSP) is the most common vasculitis in children, in whom the prognosis is mostly
dependent upon the severity of renal involvement. Nephritis is observed in about 30% of children with HSP. MYH9-relateddisorders (MYH9-RD) are a spectrum of autosomal dominant (AD) disorders characterized by congenital thrombo- cytopenia,
giant platelets, and leucocyte inclusions named Döhle bodies. Additional extra-hematological manifestations can also occur,
which are mainly hearing impairment, cataract, and nephropathy. Both of these two diseases have varying degrees of renal
involvement, and their treatment is full of challenges and risks.
Case: In this study, we summarized the clinical features and management of a child with MYH9-RD with the onset of HenochSchönlein purpura nephritis (HSPN) admitted in our department in 2017. The first symptoms of this 7-year-old girl were rashon both legs, eyelid edema, and foamy urine, followed by muscle pain in both lower extremities and abdominal pain around thenavel. Before admission, the course of the disease was two months. Renal biopsy in another hospital was diagnosed as HSPN
(Type V). After admission, the urinalysis showed that urine protein was 4+, red blood cell was 0-3/HP, and 24-hour urine protein
quantitative was 2.028g. In addition, the child’s platelets were very low, which did not meet the general performance of HSPN.
The gene detection results showed that the child was a heterozygous variant of the MYH9 gene [c.2104c>T (p.R702c)], and thevariation was inherited from her father. The child's father had hereditary thrombocytopenia, cataracts, visual impairment, andkidney damage and was treated with hemodialysis since the age of 18. In addition, the child showed binaural hearing loss, optic
ganglion cell pathway injury, thrombocytopenia (PLT was 30×109/L), and steroid-associated cataracts. After admission, the childcontinued to be treated with low-dose corticosteroids combined with methylprednisolone, followed by CTX pulse therapy. Edema
subsided, but albuminuria still existed. After the treatment with FK506, the urine protein of the child decreased. Subsequent
treatment with antihypertensive drugs and cyclosporine, the child was in a stable induction therapy condition. However, due tothe refusal of the child’s parents, platelet transfusion was not given.
Conclusions: The clinical manifestations of HSP are diverse, especially with the most severe kidney involvement. Renal biopsy
and treatment should be done as soon as possible. MYH9-related disorders caused by mutations of the MYH9 gene are rare but
essential causes of CKD. Moreover, the onset is usually hidden, and the diagnosis is difficult. Genetic testing should be performed
as soon as possible to confirm the diagnosis of MYH9-RD. In addition, the family history of the child is also an essential basis fordiagnosis.
Point of discussion:
1. Discuss the genotype and phenotype of this child, and compare the similarities and differences between this child and other
MYH9-RD patients.

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Poster Presentation[P-29]A case of glomerulonephritis with the glomerular basement
membrane abnormality and mesangial IgA deposition
Sadayuki Nagai1, Shinya Ishiko1, Shigeo Hara2, Atsushi Kondo1, Yuya Aoto1, Nana Sakakibara1,
China Nagano1, Tomoko Horinouchi1, Tomohiko Yamamura1, Takeshi Ninchoji1, Yuko Shima3,
Norishige Yoshikawa4, Koichi Nakanishi5, Kandai Nozu1, Kazumoto Iijima1
1. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
2. Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, Kobe, Japan
3. Department of Pediatrics, Wakayama Medical University, Wakayama, Japan
4. Clinical Research Center, Wakayama Medical University, Wakayama, Japan
5. Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of Ryukyus, Okinawa, Japan

Backgrounds: IgA nephropathy (IgAN) is the most common glomerulonephritis and it often shows the abnormality of theglomerular basement membrane (GBM) including thin basement membrane and/or lamellation on electron microscopy. On theother hand, in some cases with Alport syndrome (AS), mesangial hypercellularity and incidental IgA deposition are observed.
Therefore,it is sometimes difficult to differentiate these two diseases only by pathological finding. Here, we report a case ofglomerulonephritis accompanied by both IgAN deposition and apparent GBM change of diffuse thinning and lamellation. We
finally achieved the definite diagnosis of IgAN by molecular techniques.
Case: The patient is a 13-year-old girl. We performed renal biopsy because of hematuria (uRBC count 5-9~50-99/HPF) andlow-grade proteinuria (uPro/Cr 0.2-0.3g/gCr) for 1.5 years. During this clinical course, she showed no macrohematuria, kidney
dysfunction, hypocomplementemia or hypertension. She had no past medical history and no family history such as chronic kidneydisease, dialysis and/or hearing loss. Light microscopy showed focal mesangial proliferation and fibrocellular crescent in 5 of
28 glomeruli. On immunofluorescence, the presence of IgA(3+) deposits in mesangial area(0-3+scale), with IgG(2+), IgM(1+)
and C3(1+). Electron microscopy revealed diffuse thinning and apparent lamellation of the GBM. Only using these pathologicalfindings and clinical course, we could not make a definite diagnosis for IgAN or AS, so the additional tests were conducted.
By immunofluorescent staining, normal expression for α2 and α5 of type Ⅳ collagen in the GBM and Bowman’s capsulewere observed. Next-generation sequencing detected no pathogenic variants in COL4A3, COL4A4 and COL4A5 genes. On the
additional immunofluorescent staining using galactose-deficient IgA1(Gd-IgA1) antibody (KM55) which has been reported to
be a specific marker for IgAN, the deposit of Gd-IgA1 was clearly localized in the mesangial area that were costained by IgA.
Then, finally, we diagnosed her as IgAN. Proteinuria was normalized after 6 months of the treatment with lisinopril. We have also
confirmed this antibody does not stain nonspecific IgA deposition in other kidney diseases.
Conclusions: It is difficult to distinguish IgAN with the GBM abnormality from AS only by conventional pathological findings.
In this case, we performed additional analyses of gene test and immunofluorescent staining for α2 and α5 type Ⅳ collagen and
Gd-IgA1and finally reached the definitive diagnosis of IgAN. These novel molecular biological analyses are essential for thedifferential diagnosis of the cases with glomerulonephritis accompanied by the GBM abnormality and mesangial IgA deposition.
Points of discussion:
1. Can we distinguish IgAN with GBM changes from typical AS only by electron microscopy?
2. Is Gd-IgA1 expression analysis really specific for IgAN?

65

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Poster Presentation[P-30]The role of school urinalysis in the discovery of IgA nephropathy
in the Kyushu / Okinawa area
Kyoko Kiyota1,2, Katsuji Kuwakado2,3, Yasufumi Otuka2,3, Tomoyasu Kawano2, Takao Konomoto2, Mari Saimiya2,
Tosihiko Sirakawa2,3, Seiji Tanaka2, Masafumi Teramachi2, Hitoshi Nakazato2,3, Koichi Nakanishi2, Kei Nishiyama2,
Ken Hatae2, Akinori Miyazono2 and Yoshitsugu Kaku2,3
1. Department of Pediatrics, Oita University Faculty of Medicine, Japan
2. Kyushu Pediatric Nephrology Study Group, Japan
3. The Kyushu council for in-school examination, Japan

Backgrounds: School urinalysis aims to detect and treat pediatric kidney disease early and improve its prognosis. In Japan,
the world's first screening system was implemented nationwide. Among chronic glomerulonephritis, the more common IgA
nephropathy is often diagnosed by school urinalysis. However, there are no large-scale, detailed reports on how school urinalysis
is involved in the diagnosis rate of IgA nephropathy and subsequent treatment strategies.
Purpose: We will clarify the significance of school urinalysis as an opportunity to discover IgA nephropathy in the KyushuOkinawa area.
Method: The number of renal biopsies performed during the four years from 2016 year to 2019 year at the participating facilitiesof the Kyushu Pediatric Nephrology Study Group, of which the number of cases diagnosed with IgA nephropathy and school
urinalysis were the triggers for discovery. Number of cases, number of cases treated with steroids and so on a questionnaire
survey was conducted on the number of cases in which school urinalysis was the trigger for discovery.
Result: Questionnaire surveys were conducted at 22 facilities. 803 renal biopsies were performed over 4 years and 221 (27.5%)
were diagnosed with IgA nephropathy. Of these, 150 (67.9%) were diagnosed with abnormal urinalysis at school. Of the 149
cases of IgA nephropathy treated with steroids, 114 (76.5%) were diagnosed with abnormal urinalysis at school.
Discussion: A multicenter joint study in eight prefectures in Kyushu and Okinawa found many IgA nephropathy fromasymptomatic abnormal school urinalysis. More than three-quarters of cases of IgA nephropathy treated with steroids werediagnosed by school urinalysis. The prognosis of IgA nephropathy has been significantly improved by steroid treatment, andschool urinalysis has greatly contributed to the improvement of the prognosis of pediatric IgA nephropathy. Further research on
treatment content and prognosis will be needed in the future.

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Poster Presentation[P-31]
Discrepancies between CH50 and Free C5 concentrationsin 4 cases of aHUS treated with ravulizumab
Kazuki Tanaka1*, Naoya Fujita1, Satoshi Hibino1 and Stephan Ortiz2
1. Department of Nephrology, Aichi Children’s Health and Medical Center, Japan
2. Alexion Pharmaceuticals Inc, Boston, MA, USA*Corresponding author: Kazuki.tanaka0505@gmail.com

Background: Eculizumab (Ecu) and Ravulizumab (Rav) are terminal complement inhibitors approved for the treatment ofatypical hemolytic uremic syndrome (aHUS). Rav was designed via targeted modification of Ecu to achieve an extended halflife. In clinical practice, the 50% hemolytic complement (CH50) assay is widely used to monitor the inhibition of terminal
complement pathway activation during treatment with Ecu and Rav. Here, we evaluate CH50 in pediatric patients with aHUS
who switched from Ecu to Rav. This study is a sub-analysis of the ALXN1210-aHUS-312 trial (NCT03131219).
Cases: Four boys with aHUS (2 cases < 20kg, 2 cases >/= 20 kg), who switched from Ecu to Rav (Rav introduction age 1.2~12.8
years) were investigated for CH50, serum free C5 levels, serum concentration of Rav and thrombotic microangiopathy (TMA)
response parameters.
During the Ecu administration period, CH50 was below the lower limit of detection (median 2.3U/mL, IQR 0~5.6). Afterswitching to Rav, CH50 levels were elevated (median 12.5U/mL IQR 3.5~15.8). However, the trough serum concentration of Rav
after switching was above the target threshold (175 μg/mL), and free C5 levels were also below the target value (0.5 μg/mL). Allfour patients were clinically stable and TMA response parameters were well controlled (mean Platelet count 319,000 /μL, mean
LDH 258.5 U/L, mean eGFR 118.7 mL/min/1.73 m2) at 26 weeks.
Conclusions: Although discrepancies between CH50 and free C5 concentrations were observed, four patients treated with Rav
remained clinically stable, and Rav was considered to have sufficient therapeutic effect. These results suggest that the evaluationof complement inhibition by CH50 when using Rav may be limited.
Points of discussion: Discrepancies between CH50 and free C5 concentrations in patients treated with Rav can lead tomisinterpretation of complement blockade in clinical practice.

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Abstracts

Poster Presentation[P-32]
C3 Glomerulonephritis: A Entity of Complement Driven-Renal Disease in Children
with Unsatisfactory Outcome
Yulin Kang, Ping Wang, Ying Wu, Guang-hua Zhu, Wen-yan Huang*
Department of Nephrology and Rheumatology, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, China*Corresponding author: huangwenyan@sjtu.edu.cn

Background: C3 glomerulonephritis is a newly recognized entity which is characterized by prominent C3 deposition inglomerulus due to dysregulation of alternative complement pathway. Diagnosis of C3 glomerulonephritis mainly relies on
immunofluorescence staining for C3 and electron microscopy. To date, no consensus has been reached in treatment and around
70% of patients progress to end stage renal disease. The understanding of diagnosis and prognosis in C3 glomerulonephritis
remains insufficient. Herein we reported two cases of C3 glomerulonephritis in children.
Case: Case 1: A 11 years old boy with the complaint of persistent hematuria and proteinuria for 5 months was admitted to ourdepartment. Foamy urine was noted but without edema. He had no family history of renal diseases. Blood pressure was normal.
Proteinuria and hematuria were found on urinalysis (urinary protein: creatinine ratio 1.72, RBC 45-55/HP).Biochemistry
analysis revealed total protein of 52.02g/L, albumin 32.45 g/L, triglycerides 8.51 mmol/L, cholesterol 9.15mmol/L. C3 was low(0.4g/L) while ESR, ASO and CRP were within normal range. Gene mutations have not been found by using whole genome
sequencing. Eventually, the diagnosis of C3 glomerulonephritis was made on the findings of renal pathology. Subsequently,
steroid, mycophenolate mofetil and ARB were administered, but no complete remission was achieved in 2 years of follow up.
Case 2: A 13 years old boy had been presented with edema in eyelids and both lower extremities for 3 weeks. No family historyof kidney diseases was reported. The patient has nephrotic-range proteinuria (102.42mg/kg.d), hypoalbuminemia(12.7g/L) andhematuria (>100 RBC/HP). Blood pressure was 144/83 mmHg while renal function was normal. ASO was in normal range (131
IU/ml), ESR 22mm/h and C3 0.27g/L. No related gene mutations were reported after genetic analysis. Renal pathology showedthat membranoproliferative glomerulonephritis with prominent C3 deposition. Patient was diagnosed with C3 glomerulonephritis.
Renal injury was not alleviated after methylprednisolone and cyclophosphamide pulse therapy. Serum C3 was still in a low level
after three-month treatment.
Conclusion: The symptoms of C3 glomerulonephritis vary in different patients. Renal pathology is vital for differential diagnosis
as well as genetic analysis. More effective therapeutic approaches are required to improve the long term prognosis.
Points of Discussion: Challenges exists in the differential diagnosis of C3 glomerulonephritis as the symptoms could range
from asymptomatic proteinuria and hematuria to nephrotic-range proteinuria. The persistent low C3 level could be hint for renal
biopsy which is critical for its diagnosis. Meanwhile, genetic analysis is helpful to identify the potential gene mutations whichis involving in dysfunction of alternative complement pathway. The prognosis may be improved if more effective targeted
therapeutic approaches are developed in future.

68Abstracts

Poster Presentation[P-33]A case of crescent C3 glomerulonephritis (C3GN) difficult to distinguish frommonoclonal immunoglobulin (Ig)G deposits (PGNMID)
Takashi Honda1,2, Riku Hamada1,2*, Atsuko Anno2, Kantaro Kobayashi2, Keiji Akamine1, Chikako Terano1,
Ryoko Harada1, Hideyo Oguchi3, Takatoshi Tsuchihashi2, Kazutoshi Shibuya4, Ken Sakai3, Hideo Cho2,
Yutaka Yamaguchi5, Masataka Honda1, Hiroshi Hataya1
1. Department of Nephrology, Tokyo Metropolitan Children’s Medical Center, Japan
2. Department of Pediatrics, Kawasaki Municipal Hospital, Japan
3. Depatment of Nephrology, Toho University Faculty of Medicine
4. Department of Pathology, Toho University Faculty of Medicine
5. Yamaguchi’s Pathology Laboratory*Corresponding author: riku_hamada@tmhp.jp

Backgrounds: C3GN is defined as glomerulonephritis with predominant C3 deposition two orders of magnitude stronger thanIg or C1q, excluding dense deposit disease (DDD), whereas PGNMID is defined as a glomerular disease with monoclonal
IgG deposition and positive staining for a single IgG subclass and single light chain isotype. These diseases, only recently
classified, often show membranoproliferative glomerulonephritis (MPGN) on light microscopy. C3 is frequently positive on
immunofluorescence (IF) of PGNMID, which makes the differential diagnosis confusing. Herein, we describe a young adult caseof crescentic C3GN, which was difficult to distinguish from PGNMID.
Case: A 17-year-old female patient presented with proteinuria and hematuria, which were detected for the first time on a school
screening urinalysis. Detailed examination revealed proteinuria (urine TP/Cr 0.8 g/gCr), hematuria (RBC 10-19 /HPF on urinary
sediment), mild kidney function impairment (serum Cr 0.75 mg/dL, Cr-eGFR 79mL/min/1.73m²), and a low complement level(C3 58 mg/dL, C4 20mg/dL). She was referred to a specialized hospital where a kidney biopsy was performed. Light microscopy
showed that eight of 34 glomeruli were globally sclerosed while the other glomeruli showed mild endocapillary proliferativeand mesangial proliferative glomerulonephritis with crescent formation. IF revealed IgG(+) with subclass IgG1(+) alone, κ(+),λ(-), IgM(+/-), and C3(2+). Electron microscopy (EM) revealed electron-dense deposits in the mesangial, subendothelial, andsubepithelial areas with a hump-like component. The pathological findings were initially diagnosed as PGNMID on the basisof the monoclonal IgG (IgG1κ) staining. However, their subsequent, detailed assessment led the final diagnosis of crescentic
C3GN based on the lack of correspondence between the position of the hump-like deposits seen on EM and the IgG deposits
seen on IF and the strong positivity of the C3 deposits (C3(3+)) on re-evaluation. Treatment with steroid and immunosuppressant
was started, and the urine findings resolved three months later. Two years after the start of treatment, the urinary findings aremaintaining remission. A follow-up biopsy showed disappearance of the crescent and segmental sclerosis in 4/12 glomeruli. IF
revealed IgG(+/-) and C3(2+), and EM revealed electron-dense deposits the mesangial, subepithelium, and intra GBM area.
Conclusions: PGNMID and C3GN are relatively newly classified entities, and both frequently show an MPGN pattern
on pathology, making diagnosis difficult. Recent reports of PGNMID include that of a case which recurred as C3GN after
transplantation and a case whose kidney biopsy at the onset revealed C3GN. Current cases should be carefully followed up inlight of their clinical course and re-biopsy results for a long time. It is uncommon to assess IF findings of IgG subclass or lightchain isotypes routinely in pediatric patients; therefore further accumulation of data from similar cases is desirable.
Points of discussion: Distinguishing C3GN from PGNMID in the present case was difficult due to the overlapping definitions ofthese diseases. We hope to discuss how to interpret and diagnose such a case based on the pathological findings.

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Poster Presentation[P-34]
WT1 disorder associated with C3 glomerulonephritis?
Difficulty in differential diagnosis: A case report
Lin Zhilang, Rong Liping, Pei Yuxin, Qiu Yuanquan, Yue Zhihui, Mo Ying, Jiang Xiaoyun*
Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, China*Corresponding author: jxiaoy@mail.sysu.edu.cn

Backgrounds: Glomerular damage in WT1 disorder are variable, while diffuse mesangial sclerosis (DMS) in Denys-Drash
syndrome (DDS) and focal segmental glomerular sclerosis (FSGS) in Frasier syndrome (FS) comprise the major part. Mesangial
proliferative glomerular nephritis (MPGN) with C3 deposition is also observed in WT1 nephropathy occasionally, but C3
glomerulopathy with WT1 disorder has been rarely reported. Few treatments are effective in reversing the glomerular damage in
WT1 nephropathy, while immunosuppressive agents and other active therapy gradually attract attention in C3 glomerulonephritis(C3GN). A hard decision in management occurred due to the difficulty in differential diagnosis in a 10-year-old girl with WT1gene mutation.
Case: A 10-year-old girl was referred to our hospital with a complaint of anasarca for 5 days. 3 days ago, examination in a
local clinic show proteinuria (+++), increased blood urea nitrogen (9.4mmol/L) and serum creatinine (209.5umol/L). 2 days
ago, laboratory findings in a higher-level hospital included hypoalbuminemia (12.3g/L), hypercholesterolemia (15.87mmol/L),
hypocomplementemia (0.45g/L) and renal insufficiency (BUN 10.7mmol/L and SCr 215umol/L). She had a previous history ofopen reduction and internal fixation of left femoral neck after a car accident 3 years ago, followed by bone graft, internal fixation,and external fixation after hip dislocation 1 year ago due to an accidental fall. Growth retardation was noticed since then. She
had no family history of similar phenotypes. Her parents, sisters (14-year-old and 8-year-old) and a brother (2-year-old) arehealthy. Physical examination reveal hypertension (141/101mmHg), short stature, claudication, anasarca, tonsil enlargement at
one degree, and a surgery scar at left groin. Laboratory findings included anemia (Hemoglobin 108g/L), hypoalbuminemia (14g/
L), hyperuricemia (424umol/L), Hypercholesterolemia (16mmol/L); Elevated D-Dimer (2.65mg/L), BUN (11.6mmol/L), SCr(214umol/L, eGFR 30ml/min/1.73m^2), PCT (0.16ng/ml), ASO (320 Ku/L, reference range 0~160), anti-DNase-B (1440U/
ml, reference range 0~480) and iPTH (181pg/ml); Decreased C3 (0.71g/L, reference range 0.77~1.95); and normal platelets(375*10e09/L), K (4.45mmol/L), Na (141mmol/L), CRP (1.93mg/L), C4 (0.26g/L, reference range 0.07~0.40). ANA, antidsDNA, anti-C1q, ANCA, PPD-test, Coombs test, parvoviruses B19 DNA, CMV DNA, EBV DNA and hepatitis virus were
negative. Renal ultrasound shows normal-size kidneys (Left: 9.5cm*5.1cm, Right: 9.6cm*4.2cm) with hyperechogenicity. Chest
CT revealed bilateral pleural effusion with segmental atelectasis. Edema gradually resolved after diuresis and hypertension
was under control after antihypertensive therapy. She developed bronchopneumonia 5 days after admission, which relieved
after intravenous piperacillin/tazobactam treatment. Renal biopsy was performed, which revealed MPGN with intensely C3deposition (Diffuse and glomerular C3+++ and C1q+ in clumps; Exudative mild IgG and IgM) and C3 glomerulopathy (C3G)
was suspected, while differential diagnosis between C3GN and dense deposit disease (DDD) needs ultrastructural characteristics.
As sample for transmission electron microscopy (TEM) revealed no glomerulus unfortunately, TEM using paraffin material was
performed, which revealed dense deposition in subendothelial and mesangial area, with occasional subepithelial deposition but
without ribbon-shaped dense osmiophilic intramembranous deposits. Monoclonal immunoglobulin test was negative and genetic
testing was conducted. Methylprednisolone pulses followed by oral prednisone and intravenous cyclophosphamide were given
while examination for alternative complement pathway was delayed due to financial reasons. After a few weeks, to our surprise,
genetic testing result revealed no complement system-related gene disorder, but a pathogenic variant in WT1 (rs587776577,
c.1447+4C>T in intron 9) which has been reported repeatedly. Karyotype analysis and imaging for sexual development werenormal. Meanwhile, her C3 concentration fluctuates between normal and low levels. Due to consideration of the genetic factor
and a recurrent bronchitis, immunosuppressive therapy was then stopped, and in-depth examination of complement system wastaken stepwise for definite diagnosis.
Conclusions: Atypical presentations of renal pathology in patients with genetic disorder makes diagnosis more confused. Further
examination and longer follow-up are required to confirm the diagnosis in this case.
Points of discussion: 1. Differential diagnosis: ① WT1 nephropathy? ② WT1 nephropathy with C3GN? ③ WT1 nephropathy
with AGN? ④ C3GN?
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Poster Presentation[P-35]
Periodic Fever with Pauci-immune Crescentic Glomerulonephritis in a Chinese GirlLu Yin, Ling Hou, Yubin Wu, Zhao Chengguang and Yue Du*
Department of Pediatric Nephrology, Shengjing Hospital of China Medical University, China*Corresponding author: duy@sj-hospital.org

Backgrounds: Crescentic glomerulonephritis is an inflammatory condition characterized by rapid deterioration of kidney
function. Previous studies of crescentic glomerulonephritis have focused on immune activation in the kidney including
macrophague infiltration, neutrophil activation and production of various cytokines. While those immune changes may be inaccord with periodic fever. Here we report a 10-year-old girl with periodic fever and pauci-immune crescentic glomerulonephritis.
Case: This is a 10-year-old girl, with eight episodes of high fevers in conjunction with her menses. Each episodes of fever wereaccompanied by nausea, vomiting and abdominal pain. At the physical examination on admission, her condition was well with nosigns of rash, joint swelling or edema. The arterial blood pressure was normal. Laboratory tests identified a prominent increased
serum creatinine (87.9umol/L) with proteinuria (38mg/kg.d) and microscopic hematuria. Inflammatory markers increased
including C-reactive protein( 114mg/L) and ESR (96mm/h). CBC count showed mild anemia. Immune test showed increased
IgE level (1693KU/L, normal 0-60KU/L), increased antinuclear antibody titer (1:1000). However, antinuclear antibody andcomplement were negative. Test for anti-GBM antibody and ANCA were negative. The renal biopsy specimens showed pauciimmune crescentic glomerulonephritis. We didn’t perform a genetic test for her father’s refusal Methylprednisolone pulse andcyclophosphamide pulse was initiated. C-reactive protein rapidly decreased to normal in 1 week and serum creatinine recovered
to normal level(44umol/L) one month later. No respiratory lesion or periodic fever has developed during 6 months sincedischarge.
Conclusions: We describe a pauci-immune crescentic glomerulonephritis with periodic fever. Treatment with methylprednisolone
pulse and cyclophosphamide pulse received good effect for both fever and renal disorders.
Points of discussion:
1. Previous case report about renal involvement in familial-mediterranean-fever and high IgD syndrom identified crescentic
glomerulonephritis. At the same time, crescentic glomerulonephritis may present extra-renal manifestation, such as fever andrespiratory symptom.
2. Immune activation participate the pathogenesis for both crescentic glomerulonephritis and periodic fever. So there may be a
relation between crescentic glomerulonephritis and periodic fever.

71Abstracts

Poster Presentation[P-36]
Focal segmental glomerulosclerosis in a patient with atypical progeroid
Seoyun Jang, Seon Hee Lim, Ji Hyun Kim, Beom Hee Lee, Hee Gyung Kang, Hae Il Cheong, Il-Soo Ha
Department of Pediatrics, Seoul National University Children's Hospital & College of Medicine, Seoul, Korea

Backgrounds: Atypical progeroid syndrome (APS) is a type of laminopathies, which is known to be mainly caused byheterozygous missense mutations in LMNA gene. APS has heterogeneous clinical manifestations when compared with otherprogeroid syndromes, and its renal manifestations are rarely documented. Here we report a case of APS with nephropathy.
Case: A 11 years old boy with progeroid features was referred to the nephrology clinic because of hyperuricemia. He has been
managed for hyperlipidemia, fatty liver, and skeletal abnormalities since his age of 10, and recently diagnosed as APS, byexome sequencing, revealing a de novo heterozygous mutation c.898 G>C of LMNA. At presentation, he was not taking any
medication, and his serum uric acid was 7.6mg/dL (normal range: 3.0-7.0mg/dL). Urinalysis revealed elevated urine protein/Cr
ratio of 0.23. His hyperuricemia was not caused by other reasons such as medication or family history, and managed well withsingle medication (Urinon). However, incidentally found proteinuria became more evident every follow up. His urine protein/
Cr ratio and N-acetyl-b-D-glucosaminidase/Cr ratio increased up to 1.58 and 18.7 respectively. Before kidney biopsy, urine ß2
microglobulin was also elevated to 0.33ug/ml and serum uric acid level was once as high as 12.4mg/dL. Kidney biopsy result
was consistent with focal segmental glomerulosclerosis, peri-hilar type, showing segmental sclerosis of 1 glomerulus out of 21
glomeruli (5%). Angiotensin receptor blocker was added to manage his proteinuria, but because of dizziness, it was discontinued.
Conclusions: Nephropathy was found in a patient with APS. It is uncertain whether FSGS in this patient was an independent
disease or associated with APS. However, considering the rarity of APS and its heterogeneous clinical manifestation,
comprehensive evaluation of the patient including renal manifestation would be necessary.
Points of discussion:
1. What is the pathophysiology of FSGS in APS?
2. How do we treat FSGS in APS?

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Poster Presentation[P-37]A case of shunt nephritis characterized by Lupus-like syndrome
Liao Panli, Wang Xiaowen*, Qi Chang, Zhu Gaohong, Ding Juanjuan, Zhang Hongying
Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology*Corresponding author: xiaowenwang331@163.com

Backgrounds: Shunt nephritis is a rare immune complex–mediated glomerulonephritis characterized by proteinuria andhematuria, which is associated with chronically cerebrospinal fluid (CSF) shunt infection. Symptoms and signs mimic those of
systemic lupus erythematosus.
Case: An 11-year-old girl, with ventriculo-peritoneal shunt placement 10 years ago and then ventricular-atrial shunt
replacement 1 year ago for congenital hydronephrosis, showed anemia, photophobia, alopecia, hematuria, proteinuria, edema,
hepatosplenomegaly, hypertension, hyponatremia, hypocomplememia, ANA positive, Coombs positive, anticardiolipin
antibody positive, cANCA and PR3 positive. Renal biopsy showed increased mesangial hypercellularity, with three glomerularcrescents, and one glomerular adhesion and peribulbar fibrosis. Immunofluorescence showed focal IgM and C3 staining.
Electron microscopy showed that the foot processes of the podocytes were subtotally effaced, small subendothelial electrondense deposits were identified. The patient was first diagnosed as Systemic lupus erythematosus and treated with prednisone andcyclophosphamide, with essentially no beneficial effects, but developed headache and fever. Cerebrospinal fluid culture suggests
Staphylococcus epidermidis. Symptoms appeared to improve with antibiotic therapy and shunt removal.
Conclusions: If a patient presented with acute nephritis or lupus-like nephritis after ventriculo atrial shunt, especially after
ventriculo atrial shunt, shunt nephritis should be considered.
Points of discussion: With the development of medical technology and the establishment of various subcutaneous and vascularpathways, we also need to be alert to the occurrence of shunt nephritis. The specific mechanism of lupus-like syndrome in shuntnephritis needs further discussion.

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Poster Presentation[P-38]
Two cases of children who had hematuria with or without mild proteinuria with normal
renal function and positive anti-neutrophil cytoplasmic antibody
Joo Hoon Lee1, Jiwon Jung1, Heounjeong Go2, Young Seo Park1
1. Department of Pediatrics,
2. Department of Pathology,
Asan Medical Center Children’s Hsopital, University of Ulsan College of Medicine, Seoul, Korea

Introduction: The term rapidly progressive glomerulonephritis (RPGN) in the context of crescentic GN (CrGN) is a clinicalsyndrome of glomerular disease with progressive loss of renal function over a comparatively short period of time. Pauciimmune necrotizing CrGN is one form of the CrGN in which there are few or no immune deposits by immunofluorescence orelectron microscopy. Most of these patients are anti-neutrophil cytoplasmic antibody (ANCA) positive, predominantly antimyeloperoxidase (MPO) ANCA. The incidence of ANCA-associated GN in children is rare. The clinical manifestations of CrGN
are hematuria, variable degree of proteinuria, oliguria, hypertension and edema. Glomerular filtration rate (GFR) is decreased
at diagnosis in almost all cases. We report 2 cases of children with hematuria ± mild proteinuria with normal renal function andpositive ANCA.
Case1: An 11-year old boy visited our hospital due to asymptomatic microscopic hematuria and mild proteinuria on school
screening exam. He had no specific past medical history nor family history of kidney disease. His blood pressure was 107/74
mmHg., urine RBC 11-20/HPF, urine protein/Cr 0.3375, serum Cr 0.53 mg/dL, cystatin-C GFR 120 ml/min/1.73m2, MPO-ANCA>134 IU/mL, and other laboratory and sonographic findings were within normal range on initial work-up. Ten months later, hisblood pressure was 116/71 mmHg., urine RBC many/HPF, urine protein/Cr 1.7204, serum Cr 0.71 mg/dL, cystatin-C GFR 71.75
ml/min/1.73m2, MPO-ANCA >134 IU/mL. Kidney biopsy was performed and revealed focal extracapillary proliferative GN andnecrotizing glomerulonephritis (crescent 34/104 glomeruli). He was treated with steroid, mycophenolate and angiotensin receptor
blocker. GFR normalized 1 month later, proteinuria normalized 3 months later, hematuria disappeared 4 months later, and MPOANCA is 11 IU/mL on last follow-up (9 months after the initiation of treatment).
Case2: A 13-year old girl visited our hospital due to asymptomatic microscopic hematuria. She had no specific past medical
history. Her mother had hematuria due to renal stone. Her blood pressure was 98/65 mmHg., urine RBC 6-10/HPF, MPO-ANCA
11 IU/mL, and other laboratory and sonographic findings were within normal range on initial work-up. She is on routine followup for 22 months without medication and the last laboratory findings were urine RBC was 6-10/HF, MPO-ANCA 16 IU/mL withnormal renal function.
Points of discussion:
1. Does a positive ANCA obviate the need for confirmation of the diagnosis by tissue biopsy?
2. Does a rise in ANCA titers predict a disease flare?
3. Does a persistently negative ANCA assure disease quiescence?

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Poster Presentation[P-39]
Staphylococcus associated glomerulonephritis in child:a case report and review of literature
Han Meigui, Han Ziming*
Department of Pediatrics,The First Affiliated Hospital of Xinxiang Medical University, China*Corresponding author: hanziming1964@126.com

Backgrounds: Acute glomerulonephritis in children is mainly caused by streptococcal infection, and the incidence ofstaphylococcal associated glomerulonephritis is relatively low. This article reports a case of staphylococcal associatedglomerulonephritis. Combining literature reports to explore its clinical and pathological effects Features, treatment and prognosis.
Case: The clinical manifestations, laboratory and renal pathological examinations, treatment process and prognostic follow-up ofa child with staphylococcus associated glomerulonephritis were analyzed.
Conclusions: The child, an 8-year-old male, had methicillin sensitive staphylococcus aureus (MSSA) infectious pneumonia withproteinuria and edema. The lung infection gradually improved after vancomycin antibacterial treatment, the edema subsided,
but gross hematuria occurred, and the urine protein continued to be 3+. Renal puncture pathological results: intracapillary
proliferative glomerulonephritis, immunofluorescence results: IgG (+), C3 (+), methylprednisolone shock and sequential oral
prednisone treatment, gross hematuria and proteinuria disappeared. follow-up for 18 months, urine protein remained negative andrenal function was normal.
Points of discussion: The pathogenesis, clinical manifestations and pathological changes of staphylococcus associatedglomerulonephritis and glomerulonephritis after streptococcal infection are different. Staphylococcus associatedglomerulonephritis usually occurs during the period of staphylococcal infection. It is mostly manifested by large amounts ofproteinuria, and the level of complement C3 in some patients is reduced. The renal pathological manifestations are endocapillary
hyperplasia or mesangial hyperplasia, immunofluorescence may have IgG, IgA and C3 deposits; some require glucocorticoid
therapy.

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Poster Presentation[P-40]
Withdrawn76

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Poster Presentation[P-41]
Successful Treatment of two cases with Streptococcus Pneumoniae-associatedHemolytic Uremic Syndrome by anti-T-antibody Negative plasma exchange
Ling Hou, Yubin Wu and Yue Du*
Department of Pediatric Nephrology, Shengjing Hospital of China Medical University, China*Corresponding author: duy@sj-hospital.org

Backgrounds: Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia,
and acute kidney injury (AKI). It is most commonly caused by Shiga-like toxin-producing Escherichia coli (STEC) but is also
a complication of invasive pneumococcal disease (IPD). Atypical forms of HUS include HUS caused by dysregulation of thealternative complement pathway, inborn errors of metabolism, and Streptococcus pneumoniae-associated HUS (Sp-HUS). Sp-HUS
is highest among children under 2 years of age and is most frequently seen in patients with pneumonia with empyema or meningitis.
Case: The first case is a 3-year-old boy, with a 4-day history of fever and cough. At the physical examination on admission, his
condition was regular: tachycardia, tachypnea, and hypoventilation at the right lower lung. Laboratory tests showed an absenceof leukocyte, normal hemoglobin (138g/L) and platelet count (349*10^9/L), markedly elevated C-reactive protein (CRP)(123mg/L). Chest CT revealed right lower pneumonia with pleural effusion, leading to the start of antibiotic treatment withmeropenem and linezolid. About 2 days after admission, the child presented anemia (Hb 92g/L), low platelet count (14*10^9/L),
and elevated serum creatinine (143μmol/L). Peripheral blood smear showed schistocytes. Coomb's test was positive. Plasma levelof complement C3 was low (0.388g/L). Pleural fluid culture was positive for Streptococcus pneumoniae. The test of T-antigen
exposure was positive by blood transfusion department. The diagnosis was Sp-HUS. As the situation worsened, plasma exchange(PE) was initiated with anti-T-antibody negative plasma. After 4 days of PE, the patient had a clinical improvement with recoveryof renal function (serum creatinine 28μmol/L) and normal platelet count (254*10^9/L) about 9 days after admission. He wasdischarged after 16 days of hospital stay with normal renal function and no proteinuria.
The second case is also a 3-year-old boy. He presented a 6-day history of cough associated with fever and progressive clinicaldeterioration with oligo-anuria associated with hyperazotemia and edema. On physical examination, he was very irritable, withtachycardia, tachypnea, and diffuse hypoventilation in the left lung field. Chest CT showed bilateral pneumonia with multiple airsacs in left lung and pleural effusion. The patient presented elevated acute phase reactants (CRP 150mg/L), and anemia (Hb 56g/L),
low platelet count (42*10^9/L), and elevated serum creatinine (403μmol/L). He was admitted due to complicated pneumonia andsuspicion of HUS, and started antibiotic treatment with ceftriaxone and linezolid. Renal replacement therapy was started with
continuous venovenous hemodiafiltration. On admission, laboratory tests showed Coomb's test was positive, plasma level ofcomplement C3 was low (0.492g/L), peripheral blood smear showed schistocytes. Sputum culture was positive for Streptococcus
pneumoniae. The test of T-antigen exposure was also positive by blood transfusion department. So the patient was diagnosed with
Sp-HUS. PE was initiated with anti-T-antibody negative plasma for 2 days. The normalization of platelet count was reached on
4 days after admission. He was discharged after 21 days of hospital stay, with recovery of renal function. And proteinuria wasnegative at 3 months of follow-up.
Conclusions: The effectiveness of PE with anti-T-antibody negative plasma was striking, resulting in recovery of normal renal
function in the treatment of Sp-HUS.
Points of discussion:
Whether genetic screening for complement genes is necessary when the diagnosis of Sp-HUS is established clinically?
Whether fresh frozen plasma will worsen the thrombotic microangiopathy since it is unlikely that anti-T IgM binding is a criticalstep in the molecular pathology of Sp-HUS according to recent opinions?
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Poster Presentation[P-42]
Case Report: Were Membranous nephropathy Associated With
Evans’ syndrome in Childhood?
Huiying Deng, Xia Gao, Ye Chen, Huabin Yang, Xiaoyi Cai, Hui Deng
Department of Nephrology, Guangzhou Women and Children Medical center

Background: Membranous nephropathy in children are often secondary to other diseases. Although several autoimmune
disorders have been associated with membranous nephropathy in childhood, previous reports associating childhood immune
thrombocytopenia ,hemolytic anemia(Evans’ syndrome)and membranous nephropathy are rare. Moreover,the clinical relevanceand etiologic mechanisms among them still was unknown.
Case presentation: He is a 4-year-old boy now.The main features of his disease included early-onset proteinuria and immune
thrombocytopenia and hemolytic anemia as early as the first month of life.At one year of age, he developed nephrotic syndrome.
He had recurrent respiratory infections including many times of colds and three times of pneumonia during the first year of his
life.
Serological tests for hepatitis B and C ,ANCA,ANA, C4 and C3 were negative. Congenital infection screen was negative.
Analysis of serum acylcarnitine ,plasma amino acids and urine GCMS had no significant findings .Coombs’ test was positive .
Genetic analyses by Whole-Exome Sequencing showed a heterozygous variants (c.388C>T) in exon 4 of the PLCG2 gene in thepatient.
The renal biopsy which specimen was performed after two years of nephrotic syndrome showed the changes of uncharacterized
membranous glomerulonephritis. Light microscopy displayed Segmental edema and thickening of basement membrane andincreased mild-to- moderate mesangial matrix and cellularity. Immunofluorescence revealed a focal segment deposition patternof IgG in the mesangial and peripheral capillary loops.The basement membrane showed Segmental mesangial matrix insertion,
widening of segmental subendothelial space by electron microscopy . Electron dense deposit in mesangial region and basement
membrane was observed.
Since the above symptoms did not resolve after 8 weeks of prednisolone (15mg/d,about 2 mg/kg/day),mycophenolate
mofeti(MMF)l( 0.25/d ) and prednisolone(12.5mg/d)were administered at 16 months of his age. Prednisolone and MMF were
tapered off with normalization of the platelet count and Hb and resolution of the proteinuria. Now the proteinuria is occasionally
mild after infection , Hb and platelet count remains normal .
Conclusions: Evans’ syndrome may cause Membranous nephropathy in Childhood .Membranous nephropathy Associated With
Evans’ syndrome in Childhood may be a new Phenotype of PLCG2-Related Diseases
Points of discussion: The patient developed nephrotic syndrome after one year history of Evans’ syndrome, which pathologic
diagnosis was Membranous nephropathy .With improvement of immune thrombocytopenia and hemolytic anemia after
the treatment of prednisolone associate with mycophenolate mofetil , the proteinuria decreased gradually until it turned
negative,suggesting a causal relationship between Evans’ syndrome and Membranous nephropathy.
Mutations in PLCG2 gene can cause autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial
cold autoinflammatory syndrome 3. Did the immune dysregulation and autoinflammation attributing to the variants of PLCG2
gene cause thrombocytopenia and hemolytic anemia,which ultimately induced membranous nephropathy.

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Poster Presentation[P-43]
Nephrotic syndrome relapse in a boy with COVID-19
Akio Kagawa, Takuji Enya, Yuichi Morimoto, Rina Oshima, Kohei Miyazaki,
Tomoki Miyazawa, Mitsuru Okada, Keisuke Sugimoto
Department of Pediatrics, Kindai University Faculty of Medicine, Osaka-Sayama, Japan

Background: Clinical data on coronavirus disease-19 (COVID-19) in children during the management of nephrotic syndrome (NS)is lacking. Patients on prednisolone are immunocompromised and at risk of severe infections, which may induce NS relapse. We
describe the clinical course including anti-SARS-CoV-2 antibody levels of a child with NS and COVID-19.
Case: A 3-year-old boy was admitted with clinical and laboratory findings indicative of NS. Induction therapy with prednisolone(2 mg/kg/day) induced complete remission. Subsequently, while tapering the prednisolone dose, he was infected with severe
acute respiratory syndrome coronavirus 2 (SARS-CoV-2) with high fever and periorbital edema. Urinalysis revealed proteinuria(protein-creatinine ratio: 6.3 g/gCr). He was transferred to our hospital for the concurrent management of COVID-19 and NS
relapse. Physical findings were as follows: blood pressure, 98/50 mmHg; pulse, 88/minute; percutaneous oxygen saturation, 98%;
and temperature, 39℃. Hematologic examination revealed slightly elevated C-reactive protein (0.37 mg/dL). Serum creatinine(0.18 mg/dL), and blood urea nitrogen (4.0 mg/dL) levels were normal. Serum total protein (6.3 g/dL) and albumin (3.5 g/dL)levels were slightly decreased. The coagulation-fibrinolysis profile was normal. As proteinuria worsened, the prednisolone dose
was increased to 2 mg/kg/day. Proteinuria gradually improved, and remission was noted a week after initiating full-dose steroid
treatment. The fever subsided after two days without treatment for COVID-19. Anti-SARS-CoV-2 antibody including IgG levels
decreased in the early convalescent phase. Currently, he is on a reduced prednisolone dose with no recurrence of NS.
Conclusions: To our knowledge, this is the first report of NS recurrence triggered by SARS-CoV-2 infection in Asia. Although
the management of COVID-19 while under immunosuppression is controversial, full-dose prednisolone effectively controlled NS
relapse without any significant risk in our patient. Further, proper use of prednisolone did not delay virus clearance, as previously
reported. The guidelines for concurrent management of COVID-19 and pediatric NS needed to be determined with future studies.
Points of discussion: The safety of management of COVID-19 by steroids and immunosuppressants while under
immunosuppression in Nephrotic syndrome.

79Abstracts

Poster Presentation[P-44]A case of nephrotic syndrome caused by COQ6 gene mutation
with significant podocyte hypertrophy
Baige Su, Suxia Wang, Xuhui Zhong*, Xiaoyu Liu, Yanqin Zhang
Department of Pediatric, Peking University First Hospital, China*Corresponding author: xuhui7876@126.com

Backgrounds: Genetic caused has been identified in nearly one third of pediatric steroid-resistant NS (SRNS). Hereditarycoenzyme Q10 deficiency can lead to nephrotic syndrome, through reversable mitochondrial disorder. According to previous
report, the patients would benefit from early CoQ(10) supplement and reach complete remission.
Case: A 10-month-old boy presented with edema, nephrotic proteinuria and hypoalbuminemia. Meanwhile he was foundwith HBV infection. The parents are not consanguineous, without a family history of glomerulopathy. On admission, physicalexamination showed the baby had severe general edema. Laboratory examination revealed nephrotic proteinuria (3+, urinary
protein/creatinine ratio >88.6g/gcr), serum albumin 13.6 g/L, total cholesterol 5.66mmol/L and serum creatinine of 18.9μmol/L.
Serological testing for toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus infections were all negative.
Abdominal ultrasound showed enlarged kidneys and ascites. Hemofiltration and peritoneal dialysis were initiated sequentially,
due to no improvement after albumin and diuretics infusion. Renal biopsy was performed in the 6th week from disease onset.
Immunofluorescence showed weak staining for IgM and C3. Diffuse mesangial sclerosis were found on light microscopy,
with significant podocyte hypertrophy. By electron microscopy, hypertrophic podocytes were found, with a large number ofmitochondria accumulated in podocytes. Staining of HBs-Ag and HBc-Ag were negative. Whole-exome sequencing was used to
identify gene variants in the patient. Sanger sequencing and qPCR were used to confirm the variants in the patient and his parents.
Two heterozygous pathogenic variants in COQ6 gene were identified in the patient. One was c.782C>T (p. Pro261Leu) inheritedfrom his father, which had been reported before. Another was a deletion of exon3 and exon4 inherited from his mother, which
was novel. The boy has mild developmental retardation, without sensorineural deafness. After 6 weeks of CoQ(10) supplement,
urinary protein/creatinine ratio declined from 39.63 to 9.07g/gcr, with serum albumin level raised to 33.2g/L. High dose CoQ10,
30mg/kg/d, were prescribed empirically with antiviral therapy. Three months later, the dose of CoQ(10) was adjusted to 50mg/kg/d.
The child is still under followed up.
Conclusions: In this case, nephrotic syndrome was caused by recessive COQ6 gene mutation. The case was characterized
by podocyte hypertrophy and mitochondria accumulation. So far, proteinuria partially benefited from CoQ(10) supplement.
Effectiveness of higher dose of CoQ10 needs to be identified during further follow up.
Points of discussion: To explore the significance of renal pathology in early detection of COQ6 gene mutation caused nephrotic
syndrome. To disccuss the dose and efficacy of CoQ10 supplement.

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Poster Presentation[P-45]
A steroid-resistant nephrotic syndrome in a patient with coenzyme Q6 mutation:a case report of two sibling
Eun Mi Yang, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong
Department of Pediatrics, Chonnam National University Hospital and Chonnam National University Medical School, Seoul National University Children's Hospital

Coenzyme Q6 (COQ6) mutation has been identified as a cause of early-onset SRNS with sensorineural hearing loss (SNHL).
Most of patients with coenzyme Q6 mutation progressed to end-stage renal disease. Coenzyme Q10 supplementation may stop
the progression of kidney symptoms, although no benefit from this therapy has been reported with respect to the SNHL. We
report two sibling with COQ6 mutation presenting with nephrotic syndrome and outcomes after coenzyme Q10 treatment. An
11-month-old boy was diagnosed with steroid resistant nephrotic syndrome. His pathologic findings showed focal segmental
glomerulosclerosis with abnormal mitochondria. He was diagnosed biallelic COQ6 mutation combined with SNHL bilaterally.
Although oral supplementation with high dose of coenzyme Q10, he had progressed to end-stage renal disease after 3 monthof disease onset. His sister underwent genetic testing due to the history with the older sibling and was diagnosed with biallelic
COQ6 mutation after birth. While she was treated with coenzyme Q10 supplementation, renal symptoms were not developed.
However, she irregularly took a coenzyme Q10. At 3 years old, steroid resistant nephrotic syndrome was occurred. After readministration of CoQ10 supplementation (30 mg/kg/day), her proteinuria and serum albumin level were improved. At follow-up
of 2-months, her auditory and renal functions have been maintained normally. Early diagnosis is important for a CoQ6 mutation,
because immediate administration of coenzyme Q10 determines a favorable prognosis.
Keywords: Nephrotic Syndrome; Coenzyme Q10 deficiency, Coenzyme Q6 mutation81

Abstracts

Poster Presentation[P-46]
Intermediate stage of Citrin deficiency with nephrotic syndrome:a case report and literature review
Xu Lingling, Yue Zhihui, Peng Huimin, Mo Ying, Jiang Xiaoyun*
Pediatric department, the First Affiliated Hospital, Sun Yat-sen University*Corresponding author: jxiaoy@mail.sysu.edu.cn

Backgrounds: Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. It ischaracterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); 2) intermediate/compensation stage
with unique food preference from childhood to adulthood; and 3) adult-onset type II citrullinemia (CTLN2).Dietary therapy is the
major therapeutic for the disease of intermediate stage. Eating too many carbohydrates and infection can trigger CTLN2. It is arare disease, with an incidence of one in 17,000 in China, and associated with nephrotic syndrome is even rarer.
Case: A boy was diagnosed with Citrin deficiency by genetic testing due to neonatal cholestasis and was given control diets fora long time. He had no symptoms with normal serum liver enzymes. He preferred eggs and meat not rice or fruit and othersweets. when he was one year old, he was diagnosed with hormone resistance primary with nephrotic syndrome. Urinary protein
turns negative after hormone and Prograf treatment. At the age of 7 years and 3 months, he presented pneumonia and recurrenceof nephrotic syndrome, mental fatigue, anorexia and vomiting of gastric contents and then he was transferred to our pediatricnephrology department for further treatment. Physical examination on admission revealed fatigue, mild systemic edema, audible
fine moist rales, slightly distended abdomen, liver 2.5 cm below the right rib cage, spleen not palpable. On the next morning
after admission, he had frequent vomiting and occasional irritability. On the 4th day after admission, he had confusion, gradually
aggravated, systemic edema gradually aggravated, oliguria, poor digestion, abdominal distension, progressive enlargement ofliver and spleen, progressive increase of blood ammonia, transaminase and bilirubin, with the highest values of ALT 5887 U/L,
AST 21690 U/L, blood ammonia 212 umol/L, APTT 95.8 s, Fbg 1.97 g/L, the largest liver 11 cm below the right rib cage, hard
texture, and the spleen 6 cm below the left rib cage. He was diagnosised with nephrotic syndrome, Adrenocortical dysfunction,acute liver failure, acute kidney injury and pneumonia. He received diet control therapy, medium-chain triglyceride powder (12g/kg·d) orally, partial intravenous nutrition and arginine to reduce blood ammonia, anti-infection, dehydration and diuresis,
intravenous hormone, plasma exchange therapy for 3 times, bedside CRRT dehydration for 4 times, correct coagulation
abnormalities and symptomatic and supportive therapy. His consciousness returned to normal on the 7th day of admission, liver
enzymes returned to normal on the 11th day of admission, and urinary protein turned negative on the 18th day of admission.
Conclusions: The intermediate stage of Citrin deficiency combined with nephrotic syndrome makes its treatment more difficult.
There were dilemmas and contradictions in the therapeutic.
Points of discusson: To prevent progression of the intermediate phenotype of Citrlin syndrome to CTLN2, dietary control
is important, adequate protein intake and arginine supplementation should be provided, and complete protein restriction is
not recommended even in the presence of hyperammonemia. Carbohydrate intake must be limited, and large amounts ofcarbohydrates and infections can impair the process of NADH reoxidation in patients with Citrin deficiency, resulting in acuteonset or progression of the disease.

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Poster Presentation[P-47]
Withdrawn83

Abstracts

Poster Presentation[P-48]A case of thrombotic microangiopathy with nephrotic syndrome
Momoyo Matsuda, Ryutarou Hisatomi and Rika Fujimaru
Department of Pediatrics, Osaka City General Hospital, Osaka, Japan

Backgrounds: Thrombotic microangiopathy (TMA) is typically characterized by hemolytic anemia, thrombocytopenia and renal
dysfunction, but proteinuria of nephrotic range is rare. We report a case of TMA with nephrotic syndrome (NS).
Case: A 3-year old boy with Sotos syndrome was admitted to a previous hospital because of edema following fever without
diarrhea. He had no medication. A urinalysis showed proteinuria of 19.0g/g creatinine and erythrocytes of 20-29 units per highpower field. His blood examination showed serum albumin (sAlb) of 2.1g/dL, hemoglobin (Hb) of 7.0g/dL, platelet (Plt) countsof 82,000/μL, lactate dehydrogenase (LDH) of 1,366U/L, and creatinine (sCr) of 0.6mg/dL. The estimated glomerular filtration
rate was 53.3 mL/min/1.73m2. After 2 days, he was transferred to our hospital. His blood pressure was 104/61mmHg. Laboratory
findings revealed NS (proteinuria of 7.9g/g creatinine, and sAlb of 2.0g/dL) without hematuria, and TMA (Hb of 6.3g/dL, LDH
of 930U/L, sCr of 0.46mg/dL and crushed erythrocyte on blood smears) were diagnosed. However, his Plt counts recovered
and haptoglobin levels were not decreased (43mg/dL). His ADAMTS13 activity levels had not declined. The culture tests ofblood and stool were negative. We detected no serum antibodies against Shiga toxin-producing E. coli lipopolysaccharides
and autoimmunity. Total homocysteine and vitamin B12 levels were within normal range. Although prednisolone (2mg/kg/day) was started for NS, proteinuria persisted. A renal biopsy was performed. Light microscopic findings showed 3 global
and one segmental sclerosis of 45 obtained glomeruli. The remaining glomeruli had slight enlargement, with mesangiolysis
and partial double contours of the glomerular basement membrane. There was no tubular atrophy or interstitial fibrosis.
Immunofluorescent findings showed only weak (1+) positivity for immunoglobulin M. Thus, he was diagnosed with focal
segmental glomerulosclerosis (FSGS) with TMA-like findings. We started adding cyclosporine (5mg/kg/day) after biopsy, andNS achieved incomplete remission status. Two months later, we identified severe endothelial injury with endothelial cell swelling,
mesangial interposition and mesangiolysis in electron microscopic findings. In contrast, foot process effacement was partial. No
electron dense depositions were found. We have diagnosed his pathological findings as secondary FSGS on the recovery phase of
TMA. Based on these findings, his immunosuppressive therapy was scheduled to be tapered off. We found no gene mutations andanti-complement factor H antibodies related to atypical hemolytic uremic syndrome.
Points of discussion: Electron microscopic findings were useful for identifying the presence of endothelial disorders of TMA.
We have speculated that his NS was caused by loss of interaction between endothelial cell and podocytes, which is called“endothelial-podocyte crosstalk” in the glomerular filtration function.

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Poster Presentation[P-49]
Clinical analysis of children having primary nephrotic syndrome complicated withposterior reversible encephalopathy syndrome on treatment of immunosuppressants
Tan Junjie, Zhu Weixue,Yu Shengyou, Hao Zhihong, Yu Li*, Lu Wei
Department of Pediatrics, Guangzhou First People's Hospital, Guangzhou 510180, China.
*Corresponding author: yuli828@yeah.net

Objective: To explore the relationships between posterior reversible encephalopathy syndrome (PRES) and the treatment of
immunosuppressants such as ciclosporin A (CsA), tacrolimus (FK506) in children with nephrotic syndrome.
Method: The clinical data of nephrotic syndrome children with PRLS caused by immunosuppressants who were hospitalized in
Guangzhou No.1 People's Hospital from June 2014 to May 2017. Their clinical characteristics, imaging features,treatment andprognosis were analyzed.
Results: A total of 23 children were enrolled,including 13 children with CsA and 10 children with FK506. In the concurrentof PRES 20 cases were in the activity stage of nephrotic syndrome, with large amounts of urinary protein, obvious edema,
hypoalbuminemia and hyperlipidemia; while 3 cases were in the remission of nephrotic syndrome. The main clinical symptomsof PRES were hypertension, headache, epileptic attack, consciousness disorder,visual disorder and SO on. Sixty-nine point
six percent of children were using high dose immunosuppressive agents,and 78.3% had high drug concentration. The cranial
magnetic resonance imaging (MRI) results of 17 patients showed that they had T1 weighted (T1WI) hypointense, T2 weighted(T2WI) and fluid-attenuated inversion recovery (FLAIR) images hyperintense, as well as iso-and slight hypointense of diffusionweighted image (DWI) in parietal-occipital regions or complicated with frontal lobes or basal nuclei region. Computer
tomography (CT) examinations of 6 cases showed low-density focus of the occipital lobes. Children were relieved muscularspasm,debased intracranial hypertension,improved circulation,discontinued or reduced immunosuppressants at the onset of PRES.
After these treatments,21 patients' symptoms and signs disappeared within one week;two patients suffered convulsions 2 times in
one week,but recovered after one month.After three months 5 children had MRI and CT re-examination and it showed that theirbrain lesions disappeared.
Conclusions: PRES may be related to the dose and blood concentration of immunosuppressants agents.The immunosuppressantsfor nephrotic syndrome children should be increased gradually with low initiating doses.Physicians need to be precautious toprevent the occurrence of PRES once neurological symptoms occur.

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Poster Presentation[P-50]
Pathological Findings of Acute Kidney Injury in a Nephrotic Syndrome Patient
Requiring Emergency Dialysis during Methylprednisolone Pulse Therapy
Yoshinori Banno1,3*, Shunsuke Shinozuka1, Yui Shibata1, Yooka Nam1,
Shinsuke Matsumoto1, Bunshiro Akikusa2 and Ryugo Hiramoto1
1. Department of Pediatrics, Children's Medical Centre, Matsudo City General Hospital, Matsudo, Japan
2. Department of Pathology, Matsudo City General Hospital, Matsudo, Japan
3. Department of Pediatrics, National Hospital Organizaiton Saitama Hospital, Wako, Japan*Corresponding author: yoshinoribanno44@gmail.com

Backgrounds: Methylprednisolone pulse therapy (MPT) has been reported to be a cause of acute kidney injury (AKI) in pediatricpatients with nephrotic syndrome (NS). To the best of my knowledge, no study has reported on renal pathological findings
associated with the causes of MPT-associated AKI in pediatric NS.
Case: A nine-year-old girl with steroid-resistant NS had achieved incomplete remission following a treatment plan including
cyclosporine and MPT, the common treatment protocol for pediatric steroid-resistant NS patients in Japan. She became nephrotic
again, and a sixth course of MPT was administered. Before the sixth MPT, she showed no signs of infection and was treated withcyclosporine, lisinopril, famotidine, and prednisolone. Her blood test values were as follows: albumin, 2.2 g/dL; cyclosporine
blood concentration, 65 ng/mL C12; blood urea nitrogen (BUN), 24.6 mg/dL; serum creatinine (Cr), 0.68 mg/dL; and C-reactive
protein, 0.02 mg/dL. Before the sixth MPT, amlodipine was added to her treatment regimen because she had a mild headacheand her blood pressure was 119/83 mmHg. Her headache resolved, and her blood pressure dropped to within the normal range
at the start of MPT. During the MPT, all drugs were temporarily halted except amlodipine and famotidine. On the day after
MPT day 1, the patient complained of a mild headache again, and her blood pressure slightly rose to 117/70 mmHg. Tight bloodpressure control with intravenous nicardipine was initiated. After confirming the disappearance of headache and documentationof controlled blood pressure, MPT day2 was carried out with a one day postponement. Her urine sodium level was 25 mEq/Land the urine protein to creatinine ratio was 0.13. Pleural effusion and ascites were observed on ultrasonography. On MPT day3,
she developed AKI with BUN 63.5 mg/dL and Cr 1.79 mg/dL and presented with hyperkalemia, anuria, and overhydration.
Emergency hemodialysis was subsequently initiated. The urinary beta 2 microglobulin level was less than 10 μg/L and urinary
N-acetyl-beta-D-glucosaminidase was 18.4 IU/L. Hemodialysis therapy was withdrawn five days after introduction, and renal
biopsy was performed seven days after withdrawal of hemodialysis. The pathological diagnosis was peripheral focal segmental
glomerulosclerosis. No pathological findings could definitively explain the causes of AKI that required emergency dialysis.
Commonly suspected causes of AKI, such as acute tubular necrosis, urinary cast, nephrotoxicity due to cyclosporine, or interstitialnephritis, were found to be negative in this case. Only interstitial edema was considered as a potential candidate.
Conclusions: It is unclear whether or not MPT directly caused interstitial edema that required emergency dialysis in this patient.
However, based on pathological findings, the most likely cause of AKI in this NS patient during MPT was interstitial edema.
Points of discussion: The causes of AKI requiring dialysis during MPT and preventive measures.

86Abstracts

Poster Presentation[P-51]
Schimke immuno-osseous dysplasia; disease progression after kidney transplantation
Hyun Ah Woo1, Seonhee Lim1, Ji Hyun Kim1, Eujin Park2, Yo Han Ahn1, Seong Heon Kim3,
Ghee Young Kwon4, Il-Soo Ha1, Hae Il Cheong1, Hee Gyung Kang1
1. Departments of Pediatrics, Seoul National University Children's Hospital & College of Medicine
2. Kangnam Sacred Heart Hospital, College of Medicine, Hallym University
3. Pusan National University Children’s Hospital, Yangsan, Korea
4. Departments of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine

Backgrounds: Schimke immuno-osseous dysplasia (SIOD) is one of the rare causes of steroid-resistant nephrotic syndrome.
Extra-renal symptoms of this autosomal recessive disease include osteochondrodysplasia (spondyloepiphyseal dysplasia),
disproportional growth failure and defective cellular immunity. Kidney transplantation is indicated in these patients when theirkidney problems progressed to end-stage renal disease, however, inherent defective immunity of this disease complicates theoutcome. Moreover, vasculopathy and bone-marrow failure, when present, progress as well.
Case: A 4 years old boy presented with severe proteinuria. His proteinuria did not respond to steroid or calcineurin inhibitor,
and kidney biopsy was consistent with FSGS. His truncal height was disproportionally shorter and he had neutropenia andintermittent thrombocytopenia. Genetic analysis revealed compound heterozygous mutations of SMARCAL1 gene, diagnosing
SIOD. His kidney failed within a year after presentation, and he got kidney transplantation (KT) from his mother 15 months after
ensuing peritoneal dialysis. He was managed with tacrolimus and low-dose prednisolone after KT. His post-KT clinical course
was complicated by severe respiratory failure from CMV infection (5 months after KT), recurrent pneumonia, sinusitis andotitis, and viral infection requiring hospitalization such as adenovirus and rhinovirus infection. Recently, in three years of KT, his
neutropenia and thrombocytopenia aggravated, and hematopoietic stem cell transplantation is under consideration.
Conclusions: This case of SIOD shows that extra-renal manifestations of SIOD complicate the course with severe infection andfailing bone marrow, while his renal failure was managed well with KT. As other symptoms such as vasculopathy may appear
later, expectant monitoring is required in SIOD.
Points of discussion:
1. What is the optimal immunosuppression in SIOD after KT?
2. Is hematopoietic stem cell transplantation advisable in this patient, with SIOD, a disease with an average lifespan of about 9
years?

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Poster Presentation[P-52]
Risk factors for post-nephrectomy hypotension in pediatric patients:
a single-center observational study
Kentaro Nishi1, Koichi Kamei1*, Masao Ogura1, Mai Sato1, Sho Ishiwa1,2, Yoko Shioda3, Chikako Kiyotani3,
Kimikazu Matsumoto3, Kandai Nozu4, Kenji Ishikura1,5 and Shuichi Ito1,6
1. Division of Nephrology and Rheumatology, National Center for Child Health and Development, Japan
2. Department of Pediatric Nephrology, Tokyo Women`s Medical University, Japan
3. Children’s Cancer Center, National Center for Child Health and Development, Japan
4. Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
5. Department of Pediatrics, Kitasato University School of Medicine, Japan
6. Department of Pediatrics, Yokohama City University Graduate School of Medicine, Japan*Corresponding author: kamei-k@ncchd.go.jp

Background: Although hypotension is a life-threatening complication of nephrectomy in children, risk factors for its
development remain unknown. We evaluated the incidence, clinical course, and associated risk factors of pediatric postnephrectomy hypotension in an observational study.
Methods: This retrospective observational study included the clinical data of children who underwent nephrectomy in our center
between 2002 and 2020. Patients undergoing nephrectomy at kidney transplantation and those who developed hypotension before
nephrectomy were excluded.
Results: The study included 55 nephrectomies in 51 patients, including 42 unilateral, 4 two-stage bilateral, and 5 simultaneous
bilateral nephrectomies. The diagnoses were isolated Wilms tumor, neuroblastoma, congenital nephrotic syndrome, DenysDrash syndrome, WAGR (Wilms tumor, aniridia, genitourinary malformations, and mental retardation) syndrome, and autosomal
recessive polycystic kidney disease in 24, 10, nine, six, one, and one patient, respectively. Post-nephrectomy hypotension
developed in 11 (20%) patients. Two patients (3.6%) had persistent hypotension; both had their kidneys resected, and one
patient (1.8%) died. Male sex, renal disease, resection of both kidneys, low estimated glomerular filtration rate, increased left
ventricular posterior wall thickness in diastole, hypertension before nephrectomy, antihypertensive use, hyperreninemia, andhyperaldosteronism were significantly associated with post-nephrectomy hypotension. Multivariate logistic regression analysis
revealed that hypertension before nephrectomy was the only significant risk factor for post-nephrectomy hypotension (P = 0.04).
Conclusions: Hypertension before nephrectomy is a significant risk factor for pediatric post-nephrectomy hypotension. Lifethreatening hypotension, which might occur after resection of both kidneys, should be considered especially in children withhigher risk.

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Poster Presentation[P-53]
Calcifications in children on maintenance peritoneal dialysis
Jeesu Min, Seon Hee Lim, Ji Hyun Kim, Il Soo Ha, Hae Il Cheong, Hee Gyung Kang
Department of Pediatrics, Seoul National University Hospital, Seoul, Korea

Background: Heterotopic calcification has been reported in patients with chronic kidney disease (CKD), associated with uremia
and derangement of calcium-phosphate metabolism. Calcification in cardiovascular system worsens cardiovascular morbidity in
CKD. However, heterotopic calcification has not been reported frequently in children with end-stage-renal disease (ESRD). Here
we introduce pediatric cases who developed systemic multiple calcification during peritoneal dialysis (PD).
Case: Among 32 patients on maintenance PD, 4 cases were found to have heterotopic calcification. Presentation of the cases are
as follows.
A 9-years old girl with ESRD due to C1q nephropathy complained of both corneal opacity since 4 months before ensuing PD.
Suspecting band keratopathy, both corneal calcium plaques were removed twice, 8 months and 14 months after starting PD.
A 15-years-old, bed-ridden patient with ESRD complained of hard mass at left flank area 3 years after starting PD. On CT,
multiple soft tissue calcification was found and pathologic examination revealed fibroadipose tissue with dystrophic calcification.
The dialysate was changed to the one with less calcium, but the calcifications still remained or slightly increased after a year.
A 20-years-old male with ESRD due to focal segmental glomerulosclerosis with INF2 mutation showed incidental calcifications
in pelvic cavity from the beginning of the PD. There were no symptoms but the calcifications increased in size and numbers for 2
years.
A 21-years-old male on PD for 5 years complained of painless, slowly increasing, and multiple masses at left anterior leg.
Pathology of the mass revealed fibroadipose tissue with dystrophic calcification.
Conclusions: While it is rare in children with ESRD, heterotopic calcification does occur at various sites including cornea andsoft tissue. Therefore, recent KDIGO guideline of 2017 recommending to avoid calcium based phosphorus binders is applicablein children as well.
Points of discussion:
1. What are the risk factors of heterotopic calcification in children?
2. How do we treat these patents?

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Poster Presentation[P-54]A case of DICER1 syndrome presenting as Wilm’s tumor and contralateral progressive
cystic nephroma; Newly Known Cancer Predisposition Syndrome
Ji Yeon Song, Eu Jeen Yang, Chong Kun Cheon, Seong Heon Kim
Department of Pediatrics, Pusan National University Children’s Hospital, Korea

Background: DICER1 syndrome is a rare genetic disorder predisposing individuals to the development of tumors, bothbenign and malignant. Renal manifestation in this syndrome is known to be mostly cystic nephroma. However, other renalmanifestations, such as Wilm's tumor, anaplastic sarcoma, and nephromegaly have been reported.
Case: A 13 year-old girl visited our hospital for abdominal pain, and multiple cysts were found on Rt. Kidney in abdominal
CT. In the past, laparoscopic radical nephrectomy was done due to Wilm's tumor at 8 years old. After 4 years, palpable thyroid
mass on the right was found, and hemithyroidectomy was performed. She was diagnosed as follicular adenoma, and she hastaken synthyroid. Initially, we suspected Wilms tumor relapse(cystic), and MRI and US-guided biopsy were performed, butthere were no evidences of relapse. We routinely checked abdominal CT and laboratory tests, and the GFR maintained between
60 and 80 mL/min/1.73m2. The size and number of cysts increased gradually during follow up, but there were no symptoms.
During the evaluation, a 0.7cm cystic lesion in the right middle lobe of the lung, and air-trappings in both lungs were observed.
Total thyroidectomy was performed due to progressively enlarged remnant thyroid gland with multiple nodules and confirmed as
adenomatous goiter with a cystic change. We performed WES targeting cancer predisposition syndrome including, the DICER1
gene. Which revealed a heterozygous missense mutation, c.3506C>G in exon 20 of the DICER1 gene. Furthermore, the same
mutation was detected in her asymptomatic mother. During the follow-up, she occurred severe abdominal distension withpain(Right side), and the CT abdomen showed a severely enlarged right kidney with multiple septated cysts with an increased
amount of fluid collection at perirenal space. Abdominal pain and abdominal distension gradually worsened, and hemoglobin
decreased, so we considered nephrectomy as hemorrhage progression in cysts. Right total nephrectomy was done, and biopsy
revealed cystic nephroma. Continuous renal replacement therapy was applied after right nephrectomy, and maintenancehemodialysis was started on POD 4.
Conclusion: When we encounter a progressive cystic kidney disease after unilateral nephrectomy due to Wilm's tumor,
DICER1 syndrome should be one of the differential diagnosis; especially there are combined other types of tumors, such as
pleuropulmonary blastoma, multinodular goiter, and Sertoli-Leydig cell tumors.
Points of discussion:
1. Which diseases should be considered when cystic kidney disease develops after Wilm's tumor?
2. What about getting a kidney donation from asymptomatic mother ?
3. Will the same disease occur in the transplanted kidney?
4. What is the long-term prognosis of this disease in our girl ?

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Poster Presentation[P-55]A case of a 17-month-old boy presenting abnormal pelvic mass
Kyung Mi Jang, Yong Hoon Park
Department of Pediatrics, College of Medicine, Yeungnam University, Daegu, Korea

Backgrounds: Primary polydipsia (PP) is a disorder characterized by excessive intake of water that leads to excessive excretionof urine without an obvious cause. This condition is associated with psychiatric illness and disordered habits. This report
describes PP in a toddler, rarely reported in childhood and may be more prevalent than thought.
Case: A 17-month-old boy was brought to our hospital with suspected pelvic mass and vomiting. He also had symptoms ofpolydipsia and polyuria several months prior to his visit. Perinatal event and medical history were uneventful. He was born byvaginal delivery and had a birth weight of 3,300 g at 39 weeks of gestation age. His physical and neurologic examinations were
not remarkable. His blood pressure was 90/60 mmHg, respiratory rate was 28 breaths/min, and body temperature was 36.8 ℃.
His body weight was 11.9 kg (75 percentile (P)), and his height was 82 cm (25-50 P). His laboratory tests were follows: whiteblood cell count 16,410/μL, hemoglobin 11.6 g/dL, platelets 341,000/mm3, sodium 130mEq/L, potassium 4.1 mEq/L blood urea
nitrogen 10 mg/dL, creatinine 0.26 mg/dL, glucose 50 mg/dL. Basal urine osmolarity was 96 mOsm/kg, and serum osmolarity
was 270 mOsm/Kg. The spot urine test showed specific gravity 1.003, and a sodium level 14 mmol/L. His abdomen CT revealed
no specific pelvic mass except extended bladder. A water restriction was performed. The test result showed that serum osmolarity
was elevated to 285 mOsm/kg and urine osmolarity was elevated to 710 mOsm/kg. He was diagnosed as PP, and was instructedto change his water-drinking habit. After one week later, his water intake was decreased to 45-50mL/kg, and urine output was 4045 mL/kg.
Conclusion: Prolonged PP can mimic both central and nephrogenic diabetes insipidus by physiologic suppression of antidiuretic
hormone and reduction in the renal concentrating ability. Although PP is uncommon in childhood, PP can develop occasionallyand should be considered in the diagnosis of a child or adolescent with polyuria and polydipsia
Point of discussion:
1. Are there any discrimination points between diabetes insipidus and primary polydipsia?
2. What is the prevalence of primary polydipsia in children?

91Abstracts

Poster Presentation[P-56]
Additional preventative effect of probiotics on low-dose antibiotic prophylaxis
for urinary tract infection in children with vesicoureteral reflux
Yuko Akagawa, Shohei Akagawa, Tadashi Yamaguchi, Sohsaku Yamanouchi,
Takahisa Kimata, Shoji Tsuji, and Kazunari Kaneko
Department of Pediatrics, Kansai Medical University, Osaka, Japan

Backgrounds: Continuous antibiotic prophylaxis (CAP) using trimethoprim-sulfamethoxazole (TMP-SMX) is effective inpreventing recurrent febrile urinary tract infection (fUTI) in children with vesicoureteral reflux. Recent reports have discussed thebeneficial effects of adjuvant probiotics use in increasing the efficacy of CAP. However, the mechanism underlying this finding
remains unknown. To determine whether additional probiotics use alongside CAP is useful in preventing recurrent fUTIs andto clarify its effect on gut microbiota, we analyzed stool samples from 23 children under three years of age (median age of 4.8
months) with vesicoureteral reflux of grade III or higher who underwent CAP using TMP-SMX (0.2g/day).
Subjects & Methods: A total of 18 patients received only TMP-SMX CAP (CAP group), while 5 patients received bothprobiotics and TMP-SMX CAP (Probiotic group). The probiotics contained Streptococcus faecalis, Clostridium butyricum, andBacillus mesentericus. We performed 16S rRNA gene sequencing using stool samples collected 3–6 months after fUTI. Microbial
diversity and relative abundance were then compared between the groups. No patients experienced recurrent fUTI during thestudy period. There was no significant difference in alpha diversity between groups (Shannon index: CAP group 2.72 vs. Probiotic
group 2.97, p=0.50). The relative abundance of the order Enterobacteriales was significantly lower (3.4% vs. 14.4%, p=0.02) inthe Probiotic group than in the CAP group, while Bacteroidales was significantly higher in the former (19.9% vs. 6.6%, p=0.02).
Conclusions: The order Enterobacteriales consists of urinary pathogens, including Escherichia coli and Klebsiella spp. Bacteria
belonging to the order Bacteroidales are important in modulating the binding of immunoglobulin A to the intestinal mucosa,
which may have grown due to Bacillus mesentericus, an oligosaccharide producing bacteria, included in the ingested probiotics.
Points of discussion: The addition of probiotics may enhance the effect of CAP by suppressing the growth of pathogenic bacteria
in the gut, by strengthening the immunity of the intestinal mucosa.

92Abstracts

Poster Presentation[P-57]
Group B streptococcal renal abscess in a 17-year-old girl with type 1 diabetes mellitus
Kyeong Eun Oh, Sung Man Park, Hyung Eun Yim, Kee Hwan Yoo
Department of Pediatrics, Korea University College of Medicine, Seoul, Korea

Backgrounds: Group B streptococcus (GBS) is a common cause of infections among neonates, pregnant women, and the elderly.
Diabetes mellitus is also known as the major risk factor for the serious GBS infections. GBS is accountable for about 2–3% of
all urinary tract infections (UTIs), and only a few cases of GBS renal abscesses have been reported. Here, we describe a rarecase of unusual, massive GBS renal abscess accompanied with peritonitis and bilateral pleural effusion in a 17-year-old girl withuncontrolled type 1 diabetes mellitus.
Case: A 17-year-old girl was admitted because of fever and flank pain. She was diagnosed with type I diabetes mellitus 3 years
ago, but stopped taking insulin by herself. She had shown 2 days of fever and right flank pain without other urinary symptoms.
Body temperature was 38.8℃, and blood pressure was 120/70 mmHg. There was costovertebral angle tenderness on the rightside. Laboratory findings included leukocytosis (WBC 16,980/ ㎕ , neutrophile dominant) and elevation of CRP and ESR (15.4mg/dL and 58 mm/hr, respectively). Plasma and urine NGAL were in normal range but serum glucose level was 484 mg/dL, andHbA1C level was 14.6%. Urinalysis showed a pH of 5.5, specific gravity 1.040, 4+ glucosuria, 4+ ketones, and no proteinuria,
hematuria, or pyuria. Blood gas analysis showed a pH of 7.44, pCO2 of 26 mmHg and HCO3- of 17.8 mmol/L. Initial renalsonography revealed diffuse wall thickening of urinary bladder and hyperechoic parenchymal swelling in right kidney. She wasadministered with intravenous cefotaxime and insulin. Initial urine and blood cultures showed negative results. High fever andflank pain seemed to be improving after starting treatment, and there was no fever on the 6th hospital day. However, the following
day she complained of abdominal pain and fever again. Antibiotic resistance was suspected, so her antibiotic was switched toimipenem on day 7. Abdominopelvic CT revealed ruptured right renal abscess, peritonitis, and bilateral pleural effusion with
passive atelectasis in both basal lungs. Pigtail catheter drainage was started and pus culture from the abcess was done on day 8.
Abscess culture was positive for Group B streptococcus (Streptococcus agalctiae) and after 2 days of pigtail catheter insertion,
fever was subsided. Follow up sonogram demonstrated no abscess pocket and tubogram with pigtail catheter revealed no link
between the abscess pocket and the venous system. She was discharged with oral 3rd generation cephalosporin and subcutaneous
insulin regimens on day 18. One month later, kidney CT showed improved right renal abscess with cortical scarring at rightkidney lower pole.
Conclusions: The clinical picture of UTIs can be atypical in a patient with diabetes, and GBS can be a relevant cause of renal
abscess. A prompt diagnosis and timely management will be necessary to alleviate the development of further complications inpatients with UTIs showing atypical clinical courses.
Points of discussion:1) What is the cause of a negative urinalysis and urine culture in this patient?
2) Should we consider broad-spectrum antibiotic treatment from the beginning when a diabetic patient present with acute
symptoms of UTI?
Keywords: diabetes mellitus, streptococcus agalactiae, urinary tract infection

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第 18 回日韓中小児腎セミナー 2021 を開催するにあたり、多くの関係者様からご支援ご協賛を賜わりました。ここに謹んで御礼申し上げます。
第 18 回日韓中小児腎セミナー 2021
会長

郭

義胤

公益財団法人 川野小児医学奨学財団
田辺三菱製薬株式会社
株式会社ジェイ・エム・エス
キヤノンメディカルシステムズ株式会社
バクスター株式会社
CSL ベーリング株式会社
株式会社林寺メディノール
ファイザー株式会社
旭化成ファーマ株式会社
株式会社福新楼
九州小児ネフロロジー研究会会員ならびにサポート会員の先生方（2021 年 3 月 31 日現在）

94The 18th

Japan-Korea-China
Pediatric Nephrology Seminar
2021(Fukuoka, JAPAN)

Date :

25 April, 2021 (Sunday)

OnlineDepartment of Nephrology,
President : Yoshitsugu Kaku Fukuoka Children’s Hospital

Venue :