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.