PhD Scientific Days 2024

Molecular Medicine III.

Severity in function of the age at onset in hereditary podocytopathies

Előadó neve

Ms. Pálya, Dóra

Neptun code

RR9MUD

Előadó munkahelye

Bókay Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary

Előadó telefonszáma

+36 30 441 4599

Előadó e-mail címe

palya.dora@stud.semmelweis.hu

Az előadás címe

Severity in function of the age at onset in hereditary podocytopathies

Szerző(k) neve és munkahelye

Dóra Pálya^1,13, Elisa Benetti², Antonia Bouts³, Peter Conlon⁴, Stéphane Decramer⁵, Eiske Dorresteijn⁶, Daniel Gale⁷, Valerie Said Conti⁸, Elena Saliba⁸, Maria Szczepanska⁹, Jakub Zieg¹⁰, Martine Besouw¹¹, Franz Schaefer¹², Kálmán Tory^1,13

1: Pediatric Center, MTA Center of Excellence, Semmelweis University, Budapest, Hungary
2: Pediatric Nephrology Unit, Padua University Hospital, Padua, Italy
3: Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
4: Beaumont Hospital, Dublin, Ireland
5: Centre hospitalier universitaire (CHU) de Toulouse, Toulouse, France
6: Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands
7: Royal Free Hospital, London, UK
8: Mater Dei Hospital, Msida, Malta
9: Department of Pediatrics, FMS in Zabrze, Medical University of Silesia in Katowice, Poland
10: Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
11: University Medical Center Groningen, Groningen, The Netherlands
12: Division of Pediatric Nephrology, Heidelberg University Hospital, Heideleberg, Germany
13: MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary

Bemutatás módja

Szóbeli

Szekció

Molecular Medicine III.

Language of the presentation

English

Preferred session

Molecular Medicine

Összefoglaló szövege

Introduction: Steroid-resistant nephrotic syndrome in childhood results from monogenic podocytopathies in 30% of cases. Most of the remaining patients have immune-mediated disease often requiring prolonged immunosuppressive treatment. Their early differential diagnosis is of high clinical relevance but is often challenging. The clinical course of hereditary podocytopathies typically correlates with the age at presentation: late-onset forms are associated with less severe proteinuria and slower progression. In contrast, immune-mediated forms often present with severe symptoms even in adolescence. Thus, the severity at presentation may help to distinguish the two forms.
Aims: To determine the highest degree of proteinuria and lowest serum albumin level at the onset of hereditary podocytopathies.
Methods: An international cohort of patients with hereditary podocytopathies was established. We developed an online survey consisting of 19 questions and distributed it among the members of the European Rare Kidney Disease Reference Network (ERKNet). Additionally, data from the PodoNet Registry was kindly provided. The pathogenicity of all reported variants was reevaluated according to the ACMG/AMP guideline. Only patients with likely pathogenic/pathogenic variants were included in the analysis.
Results: Out of a total of 790 patients referred with a hereditary podocytopathy, 562 met our inclusion criteria. Urinary protein/creatinine ratio and serum albumin measurements at disease onset were available for 143 and 383 patients, respectively. The highest urinary protein/creatinine ratio was 1300 mg/mmol between 10 and 20 years of age and 450 mg/mmol above the age of 20. The lowest serum albumin level was 14 g/l in patients aged 10-20 years at the time of diagnosis (n=59), and 25 g/l above the age of 20 (n=16).
Conclusion: The highest degree of proteinuria and lowest serum albumin level in hereditary podocytopathies help the distinction of the immune-mediated forms at the time of diagnosis. Patients presenting with a more severe proteinuria and/or hypoalbuminemia than the determined limits are unlikely to suffer from hereditary podocytopathies, i.e. they do not need genetic testing, but rather effective immunosuppression.
Funding: NKFIH/OTKA K135798, 2023-1.2.1-ERA_NET-2023-00013, TKP2021-EGA-24, TKP2021-NVA-15

University

Semmelweis University

Supervisor

Kálmán Tory

Publication of my abstract

I do not give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

szóbeli

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

8101

Start

17:30

End

17:40