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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Bibliographic Details
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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Summary: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.
ISSN:1320-5358
1440-1797
DOI:10.1111/j.1440-1797.2005.00481.x