ea0005p79 | Diabetes, Metabolism and Cardiovascular | BES2003
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...