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Pediatric Nephrology

Erschienen in:

29.07.2016 | Review

Genetics of childhood steroid-sensitive nephrotic syndrome

verfasst von: Alana M. Karp, Rasheed A. Gbadegesin

Erschienen in: Pediatric Nephrology | Ausgabe 9/2017

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Abstract

The pathogenesis of childhood-onset nephrotic syndrome (NS), disparity in incidence of NS among races, and variable responses to therapies in children with NS have defied explanation to date. In the last 20 years over 50 genetic causes of steroid-resistant nephrotic syndrome (SRNS) have been identified, and at least two disease loci for two pathologic variants of SRNS (focal segmental glomerulosclerosis and membranous nephropathy) have been defined. However, the genetic causes and risk loci for steroid-sensitive nephrotic syndrome (SSNS) remain elusive, partly because SSNS is relatively rare and also because cases of SSNS vary widely in phenotypic expression over time. A recent study of a well-defined modest cohort of children with SSNS identified variants in HLA-DQA1 as a risk factor for SSNS. Here we review what is currently known about the genetics of SSNS and also discuss how recent careful phenotypic and genomic studies reinforce the role of adaptive immunity in the molecular mechanisms of SSNS.

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Titel: Genetics of childhood steroid-sensitive nephrotic syndrome
verfasst von: Alana M. Karp
Rasheed A. Gbadegesin
Publikationsdatum: 29.07.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 9/2017
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-016-3456-8

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Genetics of childhood steroid-sensitive nephrotic syndrome

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