Role of Genetic Screening in the Management of Familial Focal Segmental Glomerulosclerosis: A Tale of Two Sisters

Authors : Siji A, Iyengar A, Vasudevan A

Publication Year : 2019

Abstract :

We report the genetic screening results in two siblings with steroid-resistant nephrotic syndrome (SRNS) performed at different time points in the clinical course, which provided a unique opportunity to highlight the utility of genetic diagnosis at the right time. A subset of children with SRNS has an underlying mutation in the podocyte-specific genes. Recent studies analyzing genetic mutations in children with SRNS found 10–32% of the SRNS cohort, harboring a disease-causing variant with a higher proportion in familial cases (67%) as compared with sporadic cases (25%). Genetic testing in these patients will not only aid in diagnosis and prognostication of the disease but also help in limiting the exposure to expensive immunosuppression therapies and related complications.

https://www.ncbi.nlm.nih.gov/pubmed/31423072