Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.

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Lesch-Nyhan syndrome is a very rare X-linked recessive disorder caused by mutation in the gene encoding enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT ). A complete deficiency of HPRT leads to severe purine overproduction and to uric acid renal lithiasis as a consequence . This may be effectively prevented by administration of allopurinol ; however , its overdosage may result in xanthinuria and xanthine urolithiasis . We report on a 9 -year -old boy with Lesch-Nyhan syndrome who developed acute renal failure due to bilateral staghorn xanthine urolithiasis resulting from long -term treatment with excessive doses of allopurinol . To the best of our knowledge , the presented case is the first one in the literature .