Article
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
Pediatric research - 1 Feb 2006
Mucha Bettina, Ozaltin Fatih, Hinkes Bernward G, Hasselbacher Katrin, Ruf Rainer G, Schultheiss Michael, Hangan Daniela, Hoskins Bethan E, Everding Anne Schulze, Bogdanovic Radovan, Seeman Thomas, Hoppe Bernd, Hildebrandt Friedhelm
Abstract excerpt
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. Approximately 10-25% of familial and sporadic cases are caused by mutations in NPHS2 (podocin). Mutations in exons 8 and 9 of the WT1 gene have been found in patients with isolated SRNS and in SRNS associated with Wilms' tumor (WT) or urogenital malformations. However,...
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