Article
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
Kidney international - 1 May 2003
Bingham Coralie, Ellard Sian, van't Hoff William G, Simmonds H Anne, Marinaki Anthony M, Badman Michael K, Winocour Peter H, Stride Amanda, Lockwood Christopher R, Nicholls Anthony J, Owen Katharine R, Spyer Ghislaine, Pearson Ewan R, Hattersley Andrew T
Abstract excerpt
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is a dominantly inherited condition characterized by young-onset hyperuricemia, gout, and renal disease. The etiologic genes are unknown, although a locus on chromosome 16 has been identified in some kindreds. Mutations in the gene encoding hepatocyte nuclear factor (HNF)-1beta have been associated with dominant inheritance of a variety of disorders...
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