Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children

Y Frishberg, C Rinat, O Megged… - Journal of the …, 2002 - journals.lww.com
Steroid-resistant nephrotic syndrome (SRNS) represents a heterogeneous group of kidney
disorders that are often resistant to other immunosuppressive agents and tend to progress to
end-stage renal failure. Mutations in the gene NPHS2 that encode a protein named podocin
have recently been found in a recessive form of SRNS. Ten children from two inbred families
of Israeli-Arab descent presented with SRNS. Renal histologic findings were of diffuse
mesangial proliferation. Six patients reached end-stage renal failure, but nephrotic …