Searchable abstracts of presentations at key conferences in endocrinology

ea0005p79 | Diabetes, Metabolism and Cardiovascular | BES2003

Identification of the gene causing familial juvenile hyperuricaemic (Gouty) nephropathy

Stacey J , Turner J , Harding B , Kotanko P , Lhotta K , Puig J , Roberts I , Torres R , Thakker R

Gout, which is commonly associated with hyperuricaemia, affects 0.2% of the population. Hyperuricaemia has a heterogeneous aetiology that may be due to either over production and/or reduced renal clearance, of urate. In order to identify the mechanisms underlying reduced excretion of urate, we undertook positional cloning studies of familial juvenile hyperuricaemic nephropathy (FJHN), which is an autosomal dominant disorder characterised by hyperuricaemia, a low fractional ren...