Dufek-Kamperis, S; Kleta, R; Bockenhauer, D; Gale, D; Downie, ML; (2021) Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology , 36 pp. 2165-2175. 10.1007/s00467-020-04780-4.

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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.

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