title: Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.
abstract: 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.
authors.affiliation: Department of Pediatric Nephrology, Medical University of Lublin, ul. Chodzki 2, 20-093, Lublin, Poland, sikoraprzem@hotmail.com.
authors.forename: Przemysław
authors.initials: P
authors.lastname: Sikora
authors.forename: Monika
authors.initials: M
authors.lastname: Pijanowska
authors.forename: Marek
authors.initials: M
authors.lastname: Majewski
authors.forename: Beata
authors.initials: B
authors.lastname: Bieniaś
authors.forename: Halina
authors.initials: H
authors.lastname: Borzecka
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Zajczkowska
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology*; D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000188:drug therapy; D008297:Male; D052878:Urolithiasis / Q000150:complications* / Q000188:drug therapy; D014969:Xanthine Oxidase / Q000378:metabolism; D014970:Xanthines / Q000652:urine*
chemical_list: D014970:Xanthines; D000493:Allopurinol; D014969:Xanthine Oxidase