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Updated: Aug 11, 2026

Single-channel Analysis and Calcium Imaging in the Podocytes of the Freshly Isolated Glomeruli
Published on: June 27, 2015
The genetic basis of FSGS and steroid-resistant nephrosis
1Renal Division, Brigham and Women's Hospital, 77 Louis Pasteur Ave, Boston, MA, USA. mpollak@rics.bwh.harvard.edu
Abstract:
Studies of Mendelian forms of focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome have provided new insights into the mechanism of these diseases. Congenital nephrotic syndrome and familial forms of FSGS form a spectrum of podocyte diseases of varying severity and age of onset. Mutations in both nephrin gene (NPHS1) alleles lead to congenital nephrosis, podocyte foot process efacement, and loss of slit-diaphragm structure. Mutations in both podocin gene (NPHS2) alleles lead to a wide range of human disease, from childhood-onset steroid-resistant FSGS and minimal change disease to adult-onset FSGS. Dominantly inherited mutations in ACTN4, the alpha-actinin-4 gene, can lead to a slowly progressive adult-onset form of FSGS. In addition, FSGS is observed as part of several rare multisystem inherited syndromes. Here we review recent progress in understanding the genetic basis of FSGS in humans.
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