Abstract
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).
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Cameron JS, Moro F, McBride MB, Simmonds HA. Inherited disorders of purine metabolism and transport. Chapter 16.5.3 in, Oxford Textbook of Clinical Nephrology 1997, pp 13–26.
Moro F, Simmonds HA, McBride MB, Cameron JS, Williams DG, Ogg CS. Does allopurinol affect the progression in familial juvenile gouty nephropathy? Adv Exp Med Biol 1992;309A: 199–203.
Puig JG, Miranda ME, Mateos FA, Picazo ML, Jimenez ML, Calvin TS, Gil AA., Hereditary nephropathy associated with hyperuricaemia and gout Arch Intern Med 1993; 153: 357–365.
Miranda ME, Puig JG, Mateos FA, Herranz I, Martinez Ara J, Berrocal T, Prieto C, Picazo ML. The influence of allopurinol on renal deterioration in familial nephropathy associated with hyperuricaemia. Adv Exp Med Biol 1995; 370: 61–64.
Moro F, Ogg C, Cameron JS, Simmonds HA, Duley JA, McBride MB, Davies PM. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol 1991;35: 263–269.
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McBride, M.B. et al. (1998). Efficacy of Allopurinol in Ameliorating the Progressive Renal Disease in Familial Juvenile Hyperuricaemic Nephropathy (FJHN). In: Griesmacher, A., Müller, M.M., Chiba, P. (eds) Purine and Pyrimidine Metabolism in Man IX. Advances in Experimental Medicine and Biology, vol 431. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5381-6_2
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DOI: https://doi.org/10.1007/978-1-4615-5381-6_2
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