bluuebunny/crossref_metadata_2025_split huggingface dataset:
#1854 Prevalence of Fabry disease in chronic hemodialysis patients: a multicenter screening approach
Authors: Cafi Erind , Rroji (Molla) Merita , Spahia (Zeneli) Nereida 
Published: May 2024

Abstract

Background and Aims
Fabry disease (FD), an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-Gal A) deficiency, leads to significant morbidity and early mortality due to progressive organ failure. Given the availability of enzyme replacement therapy, early identification of FD is crucial for improving patient outcomes.

Method
A multicenter screening was conducted among chronic hemodialysis patients across six centers. We utilized a two-tiered diagnostic approach. Initially, α-Gal A activity was measured from dried blood spots on filter paper. Subsequently, those with reduced enzyme levels underwent GLA gene mutation analysis.

Results
Out of 428 patients, 255 (102 females and 153 males) were selected for testing, leading to the analysis of 239 patients. In the male cohort, the average α-Gal A activity was 21.84 ± 11.9 µmol/L/h, with 34 males below the cut-off value (&lt;15.3 µmol/L/h) but with normal lyso-Gb3 levels and no mutations. Among females, α-Gal A levels were typically within the normal range. Notably, one female was found to have a heterozygous variant of uncertain significance in the GLA gene [p.(Asp313Tyr)] in exon 6, with normal α-Gal A and lyso-Gb3 levels. Screening of other family members was not possible, as they resided abroad although we recommended it.

Conclusion
Screening for AFD in high-risk groups, such as hemodialysis patients, is challenging yet essential. Implementing α-Gal A measurement as a standard procedure for newly registered hemodialysis patients could prospectively identify potential Fabry carriers, offering more excellent utility than our cross-sectional study. While identifying index patients at a late disease stage may not benefit the patients themselves, it is crucial for early detection of family members, potentially altering their disease course. This proactive approach, supported by national and international guidelines, could significantly impact the management and outcomes of AFD.
#1601 Cranial vs. caudal direction technique in percutaneous kidney biopsy: an Italian single-center experience
Authors: Gangemi Concetta , Pessolano Giuseppina , Rossi Mattia , Gambaro Giovanni 
Published: May 2024

Abstract

Background and Aims
The percutaneous kidney biopsy (PKB) is the gold standard for diagnosing kidney pathology. For an appropriate diagnosis, an adequate sample size must be obtained. For most light microscopy assessments, 10 glomeruli are needed to assess the severity and the distribution of lesions adequately. However, the PKB procedure has potential risks such as bleeding, hematuria, hematoma, and the formation of an arterio-venous fistula. The PKB is nowadays a well-known technique with a low number of complications. It consists of an automated biopsy needle directed to the cortex of the inferior pole of the kidney. In clinical practices, the needle direction may have a caudal direction (CD) or a cranial direction (CN). Few small studies have compared the two techniques.

Method
We report the results of our experience of 107 percutaneous ultrasound (US)-guided native kidney biopsies with the CN technique performed from January 2021 to December 2023. Two core samples were obtained with a 14-G automated needle. After the biopsy, the patient bed-rested in a supine position for 24 hours. Vital signs and blood count controls were monitored after 2 and 4 hours. The post-biopsy kidney ultrasonogram US was done after 48 hours to detect complications.

Results
We observed 7,5% of complications: one retroperitoneal bleed required blood transfusion and embolization, and 7 perinephric hematoma size ≥ 1 cm. We compared the results of the CN-PKB with a historical cohort of 100 CD-PKB performed from January 2018 to December 2020. These last ones have shown 4% of complications, which resulted in only perinephric hematoma size ≥ 1 cm. The Chi-Square test was performed to compare statistical differences between the groups for categorical variables, showing no statistical significance (p-value &gt;0.05). Samples were always adequate for pathological diagnosis.

Conclusion
Our results demonstrate that the two PKB techniques performed with the CN and the CD techniques give similar results in terms of adequacy and safety.
#1760 Four cases of ADTKD: AFM analysis of urine sediment
Authors: Iulianiello Pietro , Viggiano Davide , Nappi Felice , Bellizzi Vincenzo , La Verde Antonietta 
Published: May 2024

Abstract

Background and Aims
Autosomal Dominant Tubulointerstitial kidney disease (ADTKD) is a rare disease (16 per million), associated with CV events, hypertension, and gout. ADTKD is characterized by interstitial fibrosis, tubular atrophy, microcysts, and progressive CKD. We describe a case of a family with clinical characteristics of ADTKD and provide for the first time a characterization of their urinary sediment. Given the tendency of a specific type of ADTKD caused by UMOD mutation to form tubular crystals, we have also tested the ability of the urine from ADTKD patients to precipitate and form crystals in vitro.

Method
We examined clinical features and urinary sediment of a family with ADTKD: a 51 years old woman with CKD (eGFR 30 mL/min/1.73 m2, CDK-EPI 2021) and her three sons, a 20 years old male, two daughters of 26 and 24 years old, all with hyperuricemia. Genetic analysis is not yet available. The test of urine precipitation consisted of the analysis of crystals after air-drying a thin layer of urine after enrichment of the organic quota by triple centrifugation for 10 minutes at 1000 rpm. Urinary sediments were also studied by Atomic Force Microscopy (ICSPI nGauge AFM) to achieve a resolution of 20 nm of crystals.

Results
Clinical data for the four patients are reported in the table. None of the patients showed proteinuria.
The urine sediment of all patients showed rare WBC (in greater amounts only in patient 1), rare amorphous granular casts, and rare tubular cells. Three patients showed formations of variably sized crystals in vitro.
The precipitation test did not show crystals in patient 1, whereas patients 2-3 showed several rosette-type crystals often with a wagon-wheel concentric contour which resembled leucine crystals or CaCO3. Adding formalin to the samples resulted in a more clear organization of crystals in wagon-wheel structures. AFM imaging of the crystals showed rod-like structures branching with an angle of 35°.

Conclusion
ADTKD remains a poorly understood genetic condition with no specific treatment options. Our data suggest that patients with this condition may have an enhanced tendency to form crystals in vitro. Speculatively, this might induce tubular injury in vivo. Data from UMOD-ko animal models showed intrarenal crystals (not better specified). Genetic alterations of branched aminoacids metabolism (such as leucine in Maple syrup disease) can also cause tubular diseases, although the systemic manifestations are very different from our patients. Genetic analysis of our family will give further information on the proteins involved in these crystal structures.
#2043 Telitacicept in patients with IgA nephropathy
Authors: Lu Wanhong , Li Huixian 
Published: May 2024

Abstract

Background and Aims
IgA nephropathy (IgAN) is typified by the renal deposition of IgA immune complexes. Advancements in understanding the pathogenesis of this disease have paved the way for innovative therapeutic approaches. Telitacicept is a fusion protein composed of transmembrane activator and calcium-modulating cyclophilin ligand interactor and fragment crystallizable portion of immunoglobulin G (IgG), which neutralizes the B lymphocyte stimulator and a proliferation-inducing ligand. We presented our single-center experience of treating IgAN with Telitacicept.

Method
Six patients with IgAN who received Telitacicept at the First affiliated hospital of Xi'an Jiaotong university between January 2023 and July 2023 were included in this retrospective study. All the patients had proteinuria ≥ 1.0 g/d despite optimal supportive therapy and received subcutaneous telitacicept 160 mg weekly. Clinical and laboratory parameters were evaluated before and after telitacicept treatment.

Results
Of all patients, there were 4 men and mean age was 35.2 ± 7.9 years. Table 1 shows baseline demographic characteristics of these patients. Before telitacicept administration, the mean serum creatinine was 133.2 ± 40.6 umol/L, median protein excretion was 2.23 (IQR, 2.05–3.54) g/d, and MAP was 97.9 ± 17.5 mmHg. After a median follow-up of 151 ± 91 days after telitacicept therapy, the mean proteinuria reduction percentage was 51.1% from baseline. The eGFR remained stable over time. The detailed laboratory parameters were shown in Table 2. No adverse events were observed during the follow-up.

Conclusion
Telitacicept treatment led to a clinically meaningful reduction in proteinuria in patients with IgAN. Larger prospective studies are needed to confirm these findings.
#2659 Clinical characteristics of patients with minimal change disease (MCD) that evolved to focal sclerosing glomerulosclerosis (FSGS)
Authors: Arimuthu Durga Arinandini , Then Ru Fah , Fuah Kar Wah , Lim Christopher Thiam Seong , Ibrahim Fairol Huda , Goh Bak Leong 
Published: May 2024

Abstract

Background and Aims
Minimal change disease (MCD) and focal sclerosing glomerulosclerosis (FSGS) are both podocytopathies and are possibly diseases that lie on a similar spectrum with FSGS being the severe form. We aim to describe the clinical and laboratory parameters along with treatment and outcomes of MCD that were found to be FSGS on repeated biopsy.

Method
All patients who had undergone renal biopsy in Hospital Serdang and had documented diagnosis of FSGS from January 2007 until December 2022 were identified. Data was collected and analysed using SPSS version 17. Results were expressed in mean ± standard deviation (SD) unless stated otherwise.

Results
Total minimal change disease were 70 patients. A total of 14 were identified as FSGS on repeated biopsy. At time of biopsy, all patients presented as relapse in nephrotic syndrome (NS). Mean age of diagnosis was 18 years for MCD while mean age of FSGS diagnosis was 23.8 years. 11 were males and two patients had positive family history of kidney disease while 10 had some form of haematuria. All patients were on steroids with 4 of them developing steroid resistance. 11 patients were on second line agents either due to steroid resistance or toxicity. Majority of patients were on azathioprine followed by cyclosporine and mycophenolate mofetil. Mean follow up was 5.7 years. Those with MCD had higher platelet (mean 462) and total cholesterol (mean 14.2) values at diagnosis of FSGS. Mean relapse after diagnosis of FSGS was 2.2 episodes. (Patients remain in remission for 31 months before relapsing) As of December 2022, 9(65%) patients had normal kidney function, 2 end stage renal disease on dialysis while 3 CKD V had passed away due to acute coronary syndrome.

Conclusion
Minimal change disease is part of a spectrum podocytopathies along with FSGS. Those with frequent relapses in MCD, older children with nephrotic syndrome and those with presence of haematuria may be warranted for a repeated biopsy to rule out evolution to FSGS.
#401 Cardiovascular risk evaluation in lupus nephritis and ANCA-associated vasculitis
Authors: Lee Tung Lin , Chew Wen Xuan , Loo Felicia , Lim Lydia , Tan Hui Zhuan , Mok Irene , Choo Jason , Lim Cynthia 
Published: May 2024

Abstract

Background and Aims
Individuals with lupus nephritis (LN) and renal ANCA-associated vasculitis (AAV) have amplified cardiovascular risks. Early recognition and intervention for metabolic disease may mitigate cardiovascular risk. We aimed to evaluate the prevalence of cardiovascular metabolic risk evaluation among adults with kidney disease due to LN and AAV treated with immunosuppressants.

Method
Retrospective cohort study of 219 patients with kidney LN (n = 175) and AAV (n = 44) diagnosed between November 2015 and December 2022. The outcomes were the prevalence of cardiovascular metabolic risk evaluation (HbA1c, fasting glucose and lipid) during the first two years of treatment.

Results
The median age was 48.6 (33.3, 60.9) years. Table 1 showed that the AAV group had lower eGFR and higher prevalence of diabetes mellitus, hypertension, and hyperlipidemia.
Glycemic evaluation was more frequent during the first year than the second year (81.0% versus 61.2%, p &lt; 0.001) for the cohort, as well as the LN (79.2% versus 61.7%, p &lt; 0.001) and AAV groups (88.4% versus 58.8%, p = 0.003). Lipid evaluation was more frequent during the first year than the second year for the cohort (60.5% versus 50.3%, p = 0.04) and for AAV (81.4% versus 47.1%, p = 0004), but not the LN group (55.1% versus 51.0%, p = 0.52).

Conclusion
Cardiovascular metabolic risk evaluation during lupus nephritis (LN) and ANCA-associated vasculitis (AAV) long-term follow-up should be optimized.
#823 Effect of dapsone on the treatment of refractory IgA vasculitis
Authors: Lee Keum Hwa , Hwang Eun Jae , Park Se Jin , Kim Ji Hong , Shin Jae Il 
Published: May 2024

Abstract

Background and Aims
IgA vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is a systemic IgA-mediated vasculitis of the small vessels commonly seen in children. The natural history of IgAV is generally self-limiting. However, one-third of patients experience symptom recurrence and a refractory course. We performed this study to examine the use of dapsone (4,4'-sulfonyldianiline or diaminodiphenyl sulfone) in refractory IgAV cases.

Method
A literature search of PubMed databases retrieved 16 articles published until May 31, 2023. A total of 38 patients with IgAV were recruited.

Results
A palpable purpura persisted in nearly all the patients with refractory course, followed by joint pain (25 of 38 patients; 69.2%). Hematuria and proteinuria were noted in 11 (28.9%) and 7 (18.4%) of the patients, respectively. Treatment response within 1-2 days was obtained in 12 of 38 patients (31.6%), compared to within ≥3 days in 22 patients (57.9%). Relapse after treatment discontinuation was reported in 21 patients (55.3%) but not in 11 patients (28.9 %). Twelve of the 38 patients (31.6%) reported adverse effects of dapsone, including arthralgia (5.3%), rash (5.3%), dapsone hypersensitivity syndrome (2.6%), methemoglobinemia (21%), and hemolysis (15.8%). These findings indicate that dapsone may have a beneficial effect on refractory IgAV.

Conclusion
It is observed that in spite of several adverse effects, dapsone treatment exerts a beneficial effect in IgAV patients with prolonged cutaneous manifestation refractory to corticosteroid. Close renal monitoring may be needed to discover renal involvement of IgAV. Multicenter randomized placebo-controlled trials are necessary to determine the standard dosage of dapsone at initial or tapering of treatment in IgAV patients.
#933 Serum and kidney complement and severity of ANCA associated vasculitis in the kidney
Authors: Lee Tung Lin , Tan Hui Zhuan , Mok Irene , Lim Cynthia , Choo Jason 
Published: May 2024

Abstract

Background and Aims
Kidney involvement in ANCA associated vasculitis (AAV) is commonly described as pauci-immune based on histological characteristics. However, we now know that the complement system is activated and contributes to the pathogenesis of AAV – with Avacopan (C5a inhibitor) demonstrating superior efficacy in maintenance of remission over Prednisolone in the ADVOCATE trial. Our aim was to evaluate if there is an association between kidney disease severity and the presence of serum and histological complement activation markers.

Method
Retrospective cohort study of 59 patients with AAV diagnosed between November 2015 and May 2019. Complement activation markers were serum complements (C3 and C4) levels and presence of complement (C3, C1q and C4) in glomerular capillary walls in immunofluorescence with intensity of 2+ and 3+. Kidney disease severity markers were peak serum creatinine value at presentation, anti-MPO or anti-PR3 levels, and number and proportion of glomeruli with crescents on kidney biopsy. Associations were evaluated using Spearman correlation or Mann Whitney U test as appropriate

Results
Among 59 patients with biopsy-proven AAV in the kidney, the median (25th percentile, 75th percentile) age was 68.8 (60.7, 73.4) years, serum creatinine was 263 (156, 560) µmol/L, and anti-MPO and anti-PR3 levels were 100.0 (81.5, 199.2) and 128.8 (22.9, 200) in 41 and 7 patients, respectively. respectively. The number and proportion of glomeruli with crescents were 6 (3, 12) and 33.3% (12.0%, 42.6%), respectively.
Serum C3 and C4 were performed in 41 patients and the median levels were 1.00 (0.83, 1.14) and 0.24 (0.18, 0.31), respectively. Serum C3 level did not correlate with serum creatinine, anti-MPO or anti-PR3 titers, and number and proportion of glomeruli with crescents. Serum C4 level was negatively correlated with anti-MPO titer (34 patients; r = −0.393, p = 0.02) but did not correlate with serum creatinine or number or proportion of crescents.
Complement in the glomerular capillary wall was present in 8 patients (13.6%): C3, C1q and C4 were present in 8, 3 and 1 patients, respectively. Serum creatinine [median 299 (IQR 133, 998) µmol/L versus 261 (156, 359) µmol/L, p = 0.39], anti-MPO titer [100 (88.3, 200) IU/ml versus 100 (79.4, 198) IU/ml, p = 0.74], number of crescents [14 (4, 21) versus 5 (3, 12), p = 0.90] and proportion of crescents [38.9% (12.5%, 42.3%) versus 31.3% (11.1%, 44.3%), p = 0.59] were not different in those with and without complement in the kidney biopsy.

Conclusion
The presence of complement activation markers was not associated with kidney disease severity in AAV. However, the detection of clinically significant associations may have been limited by our cohort size.
#1337 Evolution of ANCA-associated vasculitis in a population with confirmed renal involvement. Myeloperoxidase and proteinase 3 antibodies, which is worse?
Authors: Subiela José Enrique Ruiz-Cabello , Talavera Andrea Cifuentes , Wang Yali Chen , González Javier García , Galindo-Izquierdo María , Ruiz Enrique Morales 
Published: May 2024

Abstract

Background and Aims
Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of rare but potentially serious diseases with high mortality. Renal involvement is frequent in AAV with patients developing end-stage renal disease (ESRD) or becoming dependent on dialysis in up to 23% of patients. Several studies suggest the presence of clinical factors as predictors of survival in these diseases.
The objective of this study was to analyze clinical evolution of AAV and to identify potential risk factors for developing renal events (ESRD or dialysis) and death in patients with AAV, with special attention to the implications that the presence of myeloperoxidase (MPO) or proteinase 3 (PR3) antibodies at diagnosis may have on the disease progression.

Method
We conducted a retrospective observational study of patients under follow-up for AAV. We considered only those with a confirmed diagnosis of AAV through renal biopsy for the present study. We collected clinical and laboratory variables at the time of disease presentation. We divided the patients based on the presence of MPO or PR3. Subsequently, we analyzed the patients' progression towards the occurrence of renal events (ESRD or dialysis) and mortality.

Results
Out of the 42 studied patients, 29 were MPO-positive and 13 were PR3-positive. We observed statistically significant differences in age and the frequency of hypertension, with the MPO group being older and more hypertensive than the PR3 group. On the contrary, PR3-positive patients exhibited a higher percentage of diabetes and increased severity of vasculitis at diagnosis as measured by the Birmingham Vasculitis Activity Score (BVAS). While most MPO-positive patients met criteria for microscopic polyangiitis (MPA), all PR3-positive patients met criteria for granulomatosis with polyangiitis (GPA) according to the ACR/EULAR 2022 guidelines. There were no statistically significant differences regarding clinical or laboratory variables analyzed, neither with induction nor maintenance treatment. We did not observe differences in the progression towards renal events or mortality between groups. However, we did observe a higher percentage of disease recurrence among PR3-positive patients (Table 1).

Conclusion
There were no statistically significant differences observed in the progression towards renal events (ESRD and dialysis) or mortality regardless of MPO or PR3 antibodies.
#2724 Renal amyloidosis cohort registry in our health area
Authors: Moreno Fernando Bertomeu , de la Torre Molina Águeda López , Garcia Fabiola Alonso , De la Prada Francisco José , Lazo Mercedes Salguiera 
Published: May 2024

Abstract

Background and Aims
Renal amyloidosis is the pathological phenomenon of amyloid deposition in the kidney with marked differences in renal function impairment, proteinuria, need for renal replacement therapy (RRT) and exitus, depending on the protein involved.
Light chain amyloidosis (AL) and serum protein A (AA) amyloidosis are the most common.
Typical symptoms are severe proteinuria, nephrotic syndrome, and end-stage chronic kidney disease (ESRD).

Method
Retrospective study of a cohort of patients with renal amyloidosis. Data extracted from the biopsy registry of the HUVM Nephrology Service (2013-2022).
We collected demographic, clinical, analytical, histological and clinical outcome variables (RTT, Exitus). Results are analyzed using Mayo Clinic staging criteria.

Results
19 patients with a mean age of 63.4a; 57.9% male.
Mean laboratory values at diagnosis: creatinine (Cr) 1.56 mg/dl and proteinuria 3.9 g/24 h.
Abdominal fat biopsy in 13 cases; 3 (23%) tested positive.
Comparative analysis of AL vs non-AL forms, Cr values (1.14 vs 2.27 mg/dl respectively) (p=0.57) differed.
Proteinuria according to the histological location of the amyloid: 4.6 g/24 h in glomerular involvement vs. 0.3 g/24 h in those who did not present it (p&lt;0.05).
31.6% required RTT with a mean onset time of 250.6 d from biopsy. Exitus of 21.1%: average time of 426.5 d. (See analysis in attached table).

Conclusion
We did not observe significant deterioration of renal function, which is greater in non-AL forms of amyloidosis.
Fat biopsy was less cost-effective than reported in the literature.
Significantly lower levels of proteinuria were found in the amyloidosis group without glomerular involvement.
In our series, the prognostic capacity associated with the MAYO staging was confirmed.