Abstract
Summary A combination of events is generally required to produce hyperuricaemia and the clinical syndrome of gout. The major risk factors are an excess dietary intake of readily absorbed purines, coupled with a defect in the renal handling of uric acid which cannot respond to a purine load without an abnormal rise in blood uric acid levels. Susceptible individuals with this genetic predisposition to renal urate hypoexcretion include middle‐aged Caucasian males (over 90% of the UK gouty population) and specific races, such as Polynesians; renal function in the majority is normal for age. Gout‐is rare in the young and extremely rare in women, factors which have thrown into focus an unusual subgroup with a dominant disorder affecting young women and men equally. Here renal urate hypoexcretion is even more extreme and gout is associated with rapidly progressive renal disease. Diet may also play a role in drawing attention to such kindreds: important since early treatment may ameliorate the progression of the renal lesion. Two rare X‐linked disorders presenting as gout in young males are known where endogenous purine overproduction is the basic abnormality.
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