Renal failure due to 2,8-dihydroxyadenine urolithiasis

Eur J Pediatr. 1982 Jul;138(4):346-9. doi: 10.1007/BF00442515.


A four-year-old girl presented in renal failure due to dihydroxyadenine urolithiasis. Prior to this she had been fed a high purine macrobiotic diet, rich in pulses and grain. She was comatose, anuric, requiring peritoneal dialysis, and bilateral radiolucent renal calculi were revealed by ultrasonography and retrograde pyelography. 2,8-dihydroxyadenine stones were found at pyelolithotomy, renal biopsy revealed interstitial birefringent crystals, and a complete lack of adenine phosphoribosyl transferase (APRT) was found subsequently in erythrocyte lysates. APRT levels were initially falsely raised due to a blood transfusion on admission. The mother was shown to have heterozygote levels. The child was treated successfully with allopurinol, and a reduction in dietary purine but with only partial return of renal function.

Publication types

  • Case Reports

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / analysis
  • Adenine Phosphoribosyltransferase / deficiency
  • Allopurinol / therapeutic use
  • Child, Preschool
  • Diet, Vegetarian
  • Erythrocytes / enzymology
  • Female
  • Humans
  • Kidney Calculi / complications*
  • Kidney Calculi / drug therapy
  • Kidney Failure, Chronic / etiology*


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