Abstract
Acute renal failure (ARF) is not listed as a usual form of presentation in hypoxanthineguanine phosphoribosyltransferase deficiency, despite the gross uric acid overproduction in the defect. We found that a third of such patients may present in ARF when the urinary uric acid/creatinine ratio may be normal, not raised, and the defect may be suspected from the disproportionate increase in plasma uric acid. This is important in view of the potential confusion of uric acid with 2,8-dihydroxyadenine, the even more insoluble purine excreted in the other salvage enzyme disorder, adenine phosphoribosyltransferase deficiency. In that disorder, presentation in ARF is well recognised, the uric acid/creatinine ratio is also normal, but plasma urate is not raised. Our combined experience in these two disorders underlines the importance of early recognition and treatment with carefully adjusted doses of allopurinol, which may reverse or postpone renal failure.
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Simmonds, H.A., Cameron, J.S., Barratt, T.M. et al. Purine enzyme defects as a cause of acute renal failure in childhood. Pediatr Nephrol 3, 433–437 (1989). https://doi.org/10.1007/BF00850222
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DOI: https://doi.org/10.1007/BF00850222