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Review
. 2021 Aug;36(8):2165-2175.
doi: 10.1007/s00467-020-04780-4. Epub 2020 Oct 21.

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

Stephanie Dufek-Kamperis  1   2 , Robert Kleta  3   4 , Detlef Bockenhauer  3   4 , Daniel Gale  3 , Mallory L Downie  3   4
Affiliations
Review

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood

Stephanie Dufek-Kamperis et al. Pediatr Nephrol. 2021 Aug.

Abstract

Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood and there is growing evidence that genetics play a role in the susceptibility for the disease. Familial clustering has been observed and has led to several studies on familial SSNS trying to identify a monogenic cause of the disease. Until now, however, none of these have provided convincing evidence for Mendelian inheritance. This and the phenotypic variability within SSNS suggest a complex inheritance pattern, where multiple variants and interactions between those and the environment play roles in disease development. Genome-wide association studies (GWASs) have been used to investigate this complex disease. We herein highlight new insights in the genetics of the disease provided by GWAS and identify how these insights fit into our understanding of the pathogenesis of SSNS.

Keywords: CALHM6; GWAS; Genetics; HLA; Paediatrics; SSNS; Steroid-sensitive nephrotic syndrome.

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