The genetic basis of FSGS and steroid-resistant nephrosis

MR Pollak - Seminars in nephrology, 2003 - Elsevier
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 …