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Published in: Pediatric Nephrology 9/2017

01-09-2017 | Review

Genetics of childhood steroid-sensitive nephrotic syndrome

Authors: Alana M. Karp, Rasheed A. Gbadegesin

Published in: Pediatric Nephrology | Issue 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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Metadata
Title
Genetics of childhood steroid-sensitive nephrotic syndrome
Authors
Alana M. Karp
Rasheed A. Gbadegesin
Publication date
01-09-2017
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 9/2017
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-016-3456-8

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