Renal failure due to 2,8-dihydroxyadenine urolithiasis.
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.
D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000493:Allopurinol / Q000627:therapeutic use; D002675:Child, Preschool; D014676:Diet, Vegetarian; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000150:complications* / Q000188:drug therapy; D007676:Kidney Failure, Chronic / Q000209:etiology*
C002993:2,8-dihydroxyadenine; D000493:Allopurinol; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine