[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]

Hinyokika Kiyo. 1990 Jan;36(1):73-6.
[Article in Japanese]

Abstract

A 37-year old female was admitted with a complaint of gross hematuria. Intravenous pyelography and retrograde pyelography showed right non-functioning kidney with a radiolucent stone in the ureter. Computerized tomographic scan revealed right hydronephrosis and ureteral stone. Ureterolithotomy was performed. Infrared spectrometric analysis of the stone revealed a 2,8-dihydroxyadenine calculus. The adenine phosphoribosyltransferase activity in red blood cells was partially deficient. After the operation the patient has been given 100 mg/day of allopurinol and is on a low purine diet. There have been no signs of recurrence.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / analysis
  • Adenine Phosphoribosyltransferase / blood
  • Adenine Phosphoribosyltransferase / deficiency*
  • Adult
  • Erythrocytes / enzymology
  • Female
  • Humans
  • Japan
  • Pentosyltransferases / deficiency*
  • Ureteral Calculi / analysis
  • Ureteral Calculi / enzymology*

Substances

  • 2,8-dihydroxyadenine
  • Pentosyltransferases
  • Adenine Phosphoribosyltransferase
  • Adenine