2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant

Q J Med. 1988 Oct;68(258):785-93.


We report a case of homozygous adenine phosphoribosyl transferase (APRT) deficiency associated with 2,8-dihydroxyadenine stones recurrent in a patient with a renal transplant. The disease was diagnosed 23 years after the initial episode of renal colic. At that time the disease was unknown. Our patient is only the second case of this disorder reported from the United States. Correct diagnosis is important because long-term maintenance with allopurinol and a low purine diet can effectively prevent stone formation and renal failure.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / analysis
  • Adenine Phosphoribosyltransferase / deficiency*
  • Adult
  • Female
  • Humans
  • Kidney Calculi / analysis
  • Kidney Calculi / enzymology
  • Kidney Calculi / etiology*
  • Kidney Failure, Chronic / etiology
  • Kidney Transplantation*
  • Pentosyltransferases
  • Recurrence


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