Abstract
Lesch-Nyhan syndrome is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood. We report a case of renal pelvis calculi which was dissolved within 10 days of urine alkalinization and hydration.
MeSH terms
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Allopurinol / therapeutic use
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Child
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Fluid Therapy
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Humans
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Hydrogen-Ion Concentration
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Hypoxanthine Phosphoribosyltransferase / genetics
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Kidney Calculi / diagnostic imaging
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Kidney Calculi / etiology*
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Kidney Calculi / therapy*
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Kidney Calculi / urine
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Kidney Pelvis
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Lesch-Nyhan Syndrome / complications*
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Lesch-Nyhan Syndrome / genetics
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Male
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Mutation
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Tomography, X-Ray Computed
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Urine / chemistry
Substances
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Allopurinol
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Hypoxanthine Phosphoribosyltransferase