Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome

Urol Res. 2011 Oct;39(5):417-9. doi: 10.1007/s00240-011-0364-z. Epub 2011 Feb 18.

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.

Publication types

  • Case Reports

MeSH terms

  • Allopurinol / therapeutic use
  • Child
  • Fluid Therapy
  • Humans
  • Hydrogen-Ion Concentration
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Kidney Calculi / diagnostic imaging
  • Kidney Calculi / etiology*
  • Kidney Calculi / therapy*
  • Kidney Calculi / urine
  • Kidney Pelvis
  • Lesch-Nyhan Syndrome / complications*
  • Lesch-Nyhan Syndrome / genetics
  • Male
  • Mutation
  • Tomography, X-Ray Computed
  • Urine / chemistry

Substances

  • Allopurinol
  • Hypoxanthine Phosphoribosyltransferase