Biallelic pathogenic variants in are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction. Journal Abstract - Guideline Central

Biallelic pathogenic variants in are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction.

Published: 2026 May 28

Authors

, , , , ,

Abstract

Steroid-resistant nephrotic syndrome (SRNS) is a severe paediatric kidney disease and a leading cause of end-stage kidney disease in children, with a high genetic contribution. While over 80 monogenic causes of SRNS have been identified, a significant proportion of affected patients still lack a clear genetic diagnosis, indicating that additional causative genes remain to be discovered.

Keywords: Diagnosis, Genetic Testing, Genetic Variation, Nephrology, Pediatrics

Source

Journal of medical genetics

Publication Type

Journal Article

Language

English

PubMed ID

42209213

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