Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.
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.
Ardiles
Leopoldo G
LG
Department of Nephrology, Facutly of Medicine, Universidad Austral de Chile, Valdivia, Chile. lardiles@uach.cl
Carrasco
Alejandra E
AE
Carpio
Juan D
JD
Mezzano
Sergio A
SA
D000328:Adult; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007668:Kidney / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000209:etiology / Q000235:genetics* / Q000473:pathology
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein