{{위키데이터 속성 추적}}
{{질병 정보 (신규)
 | 이름            = 다이아몬드-블랙판 빈혈
 | 그림            = Dreigliedriger Daumen.jpg
 | 그림설명        = 
}}
'''다이아몬드 블랙판 빈혈'''({{lang|en|Diamond–Blackfan anemia}}, DBA), '''블랙판 다이아몬드 빈혈'''({{lang|en|Blackfan-Diamond anemia}},  inherited pure red cell aplasia<ref name="Williams_2010_8">{{서적 인용 | last=Kaushansky | first=K |author2=Lichtman, M |author3=Beutler, E |author4=Kipps, T |author5=Prchal, J |author6= Seligsohn, U. |title=Williams Hematology | publisher=McGraw-Hill | year=2010 | chapter=35 |edition=8th |isbn= 978-0071621519}}</ref>, inherited erythroblastopenia<ref>{{웹 인용|url=http://www.orpha.net/data/patho/Pro/en/BlackfanDiamond-FRenPro429.pdf|title=Diamond–Blackfan anemia|last=Tchernia|first=Gilbert|author2=Delauney, J|date=June 2000|publisher=Orpha.net|accessdate=1 January 2010|보존url=https://web.archive.org/web/20160307191735/https://www.orpha.net/data/patho/Pro/en/BlackfanDiamond-FRenPro429.pdf|보존날짜=2016-03-07|url-status=dead}}</ref>)은 [[선천성 장애|선천성]] [[적혈구]] [[무형성증]]의 하나로, [[아기|유아]]에게 보통 발병한다.<ref name="Cmejla2009">{{저널 인용 |vauthors=Cmejla R, Cmejlova J, Handrkova H |title=Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond–Blackfan anemia |journal=Hum. Mutat. |volume= 30|issue= 3|pages= 321–7|date=February 2009 |pmid=19191325 |doi=10.1002/humu.20874|display-authors=etal}}</ref>

== 증상 ==
다이아몬드-블랙판 빈혈은 [[정구성빈혈]]이나 [[거대적혈구빈혈]]의 특징을 지니며, [[골수]]의 적혈구 [[간세포]]의 수가 줄어들게 된다. 이는 보통 [[유아기]] 때 발전한다.

== 유전학 ==
{| class="wikitable"
|+ style="background:#aae5cd;"|'''DBA 유형'''
|-style="text-align:left; background:#ffff54; vertical-align:top;"
| style="width:10%"|'''이름'''
| style="width:10%;"|'''염색체'''
| style="width:10%;"|'''유전자형'''<ref name="OMIM105650">Online Mendelian Inheritance in Man. Diamond-Blackfan anemia. Johns Hopkins University. [https://omim.org/entry/105650]</ref>
| style="width:10%;"|'''표현형 '''
| style="width:10%;"|'''단백질'''
| style="width:15%;"|'''분열'''(cite)(cite)
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA1<ref name="OMIM105650"/>
| 19q13.2
| {{OMIM2|603474}}
| {{OMIM2|105650}}
| [[RPS19]]
| 30S ~ 18S<ref name="Hoffbrand_2011_6"/>{{rp|291}}(cite)
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| DBA2
| 8p23-p22
| 알 수 없음
| {{OMIM2|606129}}
| 
|
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA3
| 10q22-q23
| {{OMIM2|602412}}
| {{OMIM2|610629}}
| [[RPS24]]<ref name="Gazda2006">{{저널 인용 |vauthors=Gazda HT, Grabowska A, Merida-Long LB |title=Ribosomal protein S24 gene is mutated in Diamond–Blackfan anemia |journal=Am. J. Hum. Genet. |volume=79 |issue=6 |pages=1110–8 |date=December 2006 |pmid=17186470 |pmc=1698708 |doi=10.1086/510020 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63474-0 |display-authors=etal }}{{깨진 링크|url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63474-0 }}</ref>
| 30S ~ 18S<ref name="Hoffbrand_2011_6"/>{{rp|291}}(cite)
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| DBA4
| 15q
| {{OMIM2|180472}}
| {{OMIM2|612527}}
| [[RPS17]]<ref name="Cmejla2007">{{저널 인용 |vauthors=Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D |title=Ribosomal protein S17 gene (RPS17) is mutated in Diamond–Blackfan anemia |journal=Hum. Mutat. |volume=28 |issue=12 |pages=1178–82 |date=December 2007 |pmid=17647292 |doi=10.1002/humu.20608}}</ref>
| 30S ~ 18S<ref name="Hoffbrand_2011_6"/>{{rp|291}}
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA5
| 3q29-qter
| {{OMIM2|180468}}
| {{OMIM2|612528}}
| [[RPL35A]]<ref name="Farrar2008"/>
| 32S ~ 5.8S/28S<ref name="Hoffbrand_2011_6"/>{{rp|291}}(cite)
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| DBA6
| 1p22.1
| {{OMIM2|603634}}
| {{OMIM2|612561}}
| [[RPL5]]<ref name="Gazda2008"/>
| 32S ~ 5.8S/28S<ref name="Hoffbrand_2011_6"/>{{rp|291}}
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA7
| 1p36.1-p35
| {{OMIM2|604175}}
| {{OMIM2|612562}}
| [[RPL11]]<ref name="Gazda2008"/>
| 32S ~ 5.8S/28S<ref name="Hoffbrand_2011_6"/>{{rp|291}}
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| DBA8
| 2p25
| {{OMIM2|603658}}
| {{OMIM2|612563}}
| [[RPS7]]<ref name="Gazda2008"/>
| 30S ~ 18S<ref name="Hoffbrand_2011_6"/>{{rp|291}}
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA9
| 6p
| {{OMIM2|603632}}
| {{OMIM2|613308}}
| [[RPS10]]<ref name="OMIM105650"/>
| 30S ~ 18S<ref name="OMIM603632"/>
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| DBA10
| 12q
| {{OMIM2|603701}}
| {{OMIM2|613309}}
| [[RPS26]]
| 30S ~ 18S<ref name="OMIM603701"/>
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA11
| 17p13
| {{OMIM2|603704}}
| {{OMIM2|614900}}
| [[RPS26|RPL26]]
| 30S ~ 18S<ref name="OMIM603701"/>
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| DBA12
| 3p24
| {{OMIM2|604174}}
| {{OMIM2|615550}}
| [[RPL15]]
| 45S ~ 32S<ref name="OMIM604174"/>
|- style="text-align:left; background:#ececff; vertical-align:top;"
| DBA13
| 14q
| {{OMIM2|603633}}
| {{OMIM2|615909}}
| [[RPS29]]
|
|- style="text-align:left; background:#ffffec; vertical-align:top;"
| "other"
| 
|
|
| TSR2,<ref name="Gripp2014"/>[[RPS28]],<ref name="Gripp2014"/> [[GATA1]]
SLC49A1
(FLVCR1)<ref name=":0">{{저널 인용|last=Rey|first=Michelle A.|last2=Duffy|first2=Simon P.|last3=Brown|first3=Jennifer K.|last4=Kennedy|first4=James A.|last5=Dick|first5=John E.|last6=Dror|first6=Yigal|last7=Tailor|first7=Chetankumar S.|date=2008-11-01|title=Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis|url=http://www.haematologica.org/content/93/11/1617|journal=Haematologica|language=en|volume=93|issue=11|pages=1617–1626|doi=10.3324/haematol.13359|issn=0390-6078|pmid=18815190|확인날짜=2017-05-14|보존url=https://web.archive.org/web/20170517124138/http://www.haematologica.org/content/93/11/1617|보존날짜=2017-05-17|url-status=dead}}</ref>
| 
|}

== 진단 ==
일반적으로 DBA의 진단은 [[일반 혈액 검사|혈액 검사]]와 [[골수 검사]]를 통해 이루어진다.

== 치료 ==
[[코르티코스테로이드]]를 사용하여 DBA 빈혈을 치료할 수 있다. 225명의 환자를 대상으로 한 연구에서 82%가 이 치료에 처음으로 응답하였으나 수많은 부작용이 보고되었다.<ref name="Vlachos2001"/> 일부 환자들은 스테로이드에 계속 반응하였으나 다른 환자들에게는 [[효능]]이 줄어들었다. [[수혈]]을 통해서도 심각한 DBA 빈혈을 치료할 수 있다. [[조혈줄기세포이식]](BMT)을 통해 DBA의 혈액학적인 측면을 치료할 수 있다.

== 역사 ==
이 질병은 1936년 Hugh W. Josephs에 의해 처음 보고되었으나<ref name="Williams_2010_8"/>{{rp|485}}<ref name="Josephs1936"/>, 1938년 선천성 [[형성부전]] 빈혈을 기술한 [[루이스 다이아몬드]]와 [[케네스 블랙판]]의 이름을 따게 되었다.<ref>{{저널 인용 | vauthors=Diamond LK, Blackfan KD | title=Hypoplastic anemia. | journal=Am. J. Dis. Child. | year=1938 | pages=464–467  | volume=56 }}</ref>

== 각주 ==
{{각주|2|refs=
<!--step1-->

<ref name="Cmejla2007">{{저널 인용 |vauthors=Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D |title=Ribosomal protein S17 gene (RPS17) is mutated in Diamond–Blackfan anemia |journal=Hum. Mutat. |volume=28 |issue=12 |pages=1178–82 |date=December 2007 |pmid=17647292 |doi=10.1002/humu.20608}}</ref>

<ref name="Cmejla2009">{{저널 인용 |vauthors=Cmejla R, Cmejlova J, Handrkova H |title=Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond–Blackfan anemia |journal=Hum. Mutat. |volume= 30|issue= 3|pages= 321–7|date=February 2009 |pmid=19191325 |doi=10.1002/humu.20874|display-authors=etal}}</ref>

<!--step0--><ref name="Farrar2008">{{저널 인용 |vauthors=Farrar JE, Nater M, Caywood E |title=Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond–Blackfan anemia |journal=Blood |volume=112 |issue=5 |pages=1582–92 |date=September 2008 |pmid=18535205 |pmc=2518874 |doi=10.1182/blood-2008-02-140012 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=18535205 |display-authors=etal }}{{깨진 링크|url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=18535205 }}</ref>



<ref name="Gazda2006">{{저널 인용 |vauthors=Gazda HT, Grabowska A, Merida-Long LB |title=Ribosomal protein S24 gene is mutated in Diamond–Blackfan anemia |journal=Am. J. Hum. Genet. |volume=79 |issue=6 |pages=1110–8 |date=December 2006 |pmid=17186470 |pmc=1698708 |doi=10.1086/510020 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63474-0 |display-authors=etal }}{{깨진 링크|url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63474-0 }}</ref>

<!--step2--><ref name="Gazda2008">{{저널 인용 |author1=Gazda H. T. |author2=Sheen M. R. |author3=Vlachos A | year = 2008 | title = Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients | url = | journal = The American Journal of Human Genetics | volume = 83 | issue = 6| pages = 769–80 | doi = 10.1016/j.ajhg.2008.11.004 | pmid = 19061985 | pmc=2668101|display-authors=etal}}</ref>

<ref name="Gripp2014">{{저널 인용 | author = Gripp K. W. | author2 =  Curry C | author3 = Olney A. H. | author4 = Sandoval C | author5 = Fisher J | author6 = Chong J. X. | author7 = UW Center for Mendelian Genomics | author8 = Pilchman L | author9 = Sahraoui R | author10 = Stabley D. L. | author11 = Sol-Church K | year = 2014 | title = Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 | url = | journal = American Journal of Medical Genetics | volume = 164A | issue = 9| pages = 2240–9 | doi = 10.1002/ajmg.a.36633 | pmid = 24942156 | pmc=4149220}}</ref>

<ref name="Hoffbrand_2011_6">{{서적 인용 | last=Hoffbrand | first=AV |author2=Moss PAH|title=Essential Haematology | publisher=Wiley-Blackwell | year=2011 | chapter= |edition=6th |isbn= 978-1-4051-9890-5}}</ref>

<ref name="Josephs1936">{{저널 인용 | author=Hugh W. Josephs | title=Anaemia of infancy and early childhood| journal= Medicine (Baltimore) | year=1936| volume=15| pages=307–451 | doi=10.1097/00005792-193615030-00001}}</ref>

<ref name="OMIM105650">Online Mendelian Inheritance in Man. Diamond-Blackfan anemia. Johns Hopkins University. [https://omim.org/entry/105650]</ref>

<ref name="OMIM603632">{{OMIM|603632}}</ref>

<ref name="OMIM603701">{{OMIM|603701}}</ref>

<ref name="OMIM604174">{{OMIM|604174}}</ref>

<!--step0-->

<!--step0-->

<!--step0--><ref name="Vlachos2001">{{저널 인용 |vauthors=Vlachos A, Klein GW, Lipton JM | title= The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond–Blackfan anemia. | journal= J. Pediatr. Hematol. Oncol. | year=2001 | pages=377–82 | volume=23 | issue=6  | pmid=11563775 | doi= 10.1097/00043426-200108000-00015}}</ref>

}}

== 외부 링크 ==
{{Medical resources
 | DiseasesDB      =     
 | ICD10           = {{ICD10|D|61|0|d|60}} 
 | ICD9            = {{ICD9|284.01}} 
 | ICDO            = 
 | OMIM            = 105650 
 | MedlinePlus     = 
 | eMedicineSubj   = article/205695-overview
 | eMedicineTopic  = 
 | MeshID          = D029503 
}}
* {{언어링크|en}} [https://web.archive.org/web/20170509171937/http://dbafoundation.org/ Diamond Blackfan Anemia Foundation] (USA)
* {{언어링크|en}} [https://web.archive.org/web/20100424053154/http://ghr.nlm.nih.gov/condition=diamondblackfananemia Diamond–Blackfan anemia] Genetics Home Reference

{{전거 통제}}

[[분류:소아청소년과]]