Treatment of steroid-resistant nephrotic syndrome in the genomic era
Author(s) -
Adam Bensimhon,
Anna E. Williams,
Rasheed Gbadegesin
Publication year - 2018
Publication title -
pediatric nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.831
H-Index - 107
eISSN - 1432-198X
pISSN - 0931-041X
DOI - 10.1007/s00467-018-4093-1
Subject(s) - medicine , nephrotic syndrome , genetic testing , disease , population , nephrology , bioinformatics , biology , environmental health
The pathogenesis of steroid-resistant nephrotic syndrome (SRNS) is not completely known. Recent advances in genomics have elucidated some of the molecular mechanisms and pathophysiology of the disease. More than 50 monogenic causes of SRNS have been identified; however, these genes are responsible for only a small fraction of SRNS in outbred populations. There are currently no guidelines for genetic testing in SRNS, but evidence from the literature suggests that testing should be guided by the genetic architecture of the disease in the population. Notably, most genetic forms of SRNS do not respond to current immunosuppressive therapies; however, a small subset of patients with monogenic SRNS will achieve partial or complete remission with specific immunomodulatory agents, presumably due to non-immunosuppressive effects of these agents. We suggest a pragmatic approach to the therapy of genetic SRNS, as there is no evidence-based algorithm for the management of the disease.