Renal failure due to 2,8-dihydroxyadenine urolithiasis.

Abstract

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.

• Authors: M C Greenwood, M J Dillon, H A Simmonds, T M Barratt, J R Pincott, C Metreweli
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 138 Issue 4 Pg. 346-9 (Jul 1982) ISSN: 0340-6199 [Print] Germany
• PMID: 7128645 (Publication Type: Case Reports, Journal Article)

Chemical References

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

Topics

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