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Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin‐encoding gene (Case Report)

A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation...

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Published in:	Nephrology (Carlton, Vic.) Vic.), 2005-12, Vol.10 (6), p.553-556
Main Authors:	ARDILES, LEOPOLDO G, CARRASCO, ALEJANDRA E, CARPIO, JUAN D, MEZZANO, SERGIO A
Format:	Article
Language:	English
Subjects:	Adult familial nephrotic syndrome focal segmental glomerulosclerosis Glomerulosclerosis, Focal Segmental - complications Glomerulosclerosis, Focal Segmental - genetics Glomerulosclerosis, Focal Segmental - pathology Heterozygote Humans Intracellular Signaling Peptides and Proteins Kidney - pathology Male Membrane Proteins - genetics Mutation Nephrotic Syndrome - etiology Nephrotic Syndrome - genetics Nephrotic Syndrome - pathology NPHS2 podocin
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creator	ARDILES, LEOPOLDO G CARRASCO, ALEJANDRA E CARPIO, JUAN D MEZZANO, SERGIO A
description	A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non‐neutral polymorphism R229Q in exon 5. We review literature supporting the genetic basis of the disease.
doi_str_mv	10.1111/j.1440-1797.2005.00481.x
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subjects	Adult familial nephrotic syndrome focal segmental glomerulosclerosis Glomerulosclerosis, Focal Segmental - complications Glomerulosclerosis, Focal Segmental - genetics Glomerulosclerosis, Focal Segmental - pathology Heterozygote Humans Intracellular Signaling Peptides and Proteins Kidney - pathology Male Membrane Proteins - genetics Mutation Nephrotic Syndrome - etiology Nephrotic Syndrome - genetics Nephrotic Syndrome - pathology NPHS2 podocin
title	Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin‐encoding gene (Case Report)
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