Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN)

Familial juvenile hyperuricaemic nephropathy (FJHN) is a dominant disorder with high penetrance (Fig. 1). In the past it has been associated with progressive renal disease in young men, women and children, frequently spanning several generations and leading to premature death. The unusual presentation with gout in such young subjects, equally unexpected in women or in renal disease, has served to draw attention to kindreds with what was previously considered a ‘familial renal disease’ of unknown aetiology (Fig. 1). The biochemical hallmark of FJHN is now known to be hyperuricaemia due to a grossly reduced fractional uric acid clearance (1). Six years ago we reported the beneficial effect of allopurinol in 10 patients followed for up to 23 years (2). However, the efficacy of allopurinol found in our series has been disputed by others who have reported no such effect (3,4). We have now followed many more patients, including siblings recognised as having FJHN during biochemical screening. The results support our original contention (2), and suggest explanations for the discrepant findings reported by others (3,4).