Familial juvenile gout

Common Name(s)

Familial juvenile gout

Familial juvenile hyperuricemic (gouty) nephropathy (HNFJ) is an autosomal dominant disorder characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid, defective urinary concentrating ability, interstitial nephropathy, and progression to end-stage renal failure (summary by {17:Piret et al., 2011}). A form of medullary cystic kidney disease (MCKD2; {603860}) is also caused by mutation in the UMOD gene, as is a form of glomerulocystic kidney disease ({609886}) with hyperuricemia and isosthenuria. Genetic Heterogeneity of Familial Juvenile Hyperuricemic Nephropathy Familial juvenile hyperuricemic nephropathy-2 (HNFJ2; {613092}) is caused by mutation in the renin gene (REN; {179820}) on chromosome 1q32. HNFJ3 ({614227}) has been mapped to chromosome 2p22.1-p21. An atypical form of HNFJ, associated with renal cysts and diabetes, is caused by mutation in the HNF1B gene ({189907}) on chromosome 17q12.
 

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