[A Case Report of 2,8-Dihydroxyadenine Stone]

Hinyokika Kiyo. 2015 Jul;61(7):279-83.
[Article in Japanese]

Abstract

Here we report a case of a 2,8-dihydroxyadenine (2,8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effective. Transurethral ureterolithotripsy (TUL) was successful. An analysis of the stone revealed 2,8-DHA. A 2,8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency. By genetic tests, she was diagnosed with APRT deficiency.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine Phosphoribosyltransferase / deficiency
  • Female
  • Humans
  • Metabolism, Inborn Errors / complications
  • Middle Aged
  • Spectrophotometry, Infrared
  • Tomography, X-Ray Computed
  • Treatment Outcome
  • Ureteral Calculi / etiology
  • Ureteral Calculi / therapy*
  • Urolithiasis / complications

Substances

  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine

Supplementary concepts

  • Adenine phosphoribosyltransferase deficiency