Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. 1677 22