European Journal of Pediatrics

, Volume 138, Issue 4, pp 346–349 | Cite as

Renal failure due to 2,8-dihydroxyadenine urolithiasis

  • M. C. Greenwood
  • M. J. Dillon
  • H. A. Simmonds
  • T. M. Barratt
  • J. R. Pincott
  • C. Metreweli
Case Reports


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.

Key words

2,8-dihydroxyadenine adenine phosphoribosyl transferase urolithiasis allopurinol renal failure 


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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • M. C. Greenwood
    • 1
  • M. J. Dillon
    • 1
  • H. A. Simmonds
    • 2
  • T. M. Barratt
    • 1
  • J. R. Pincott
    • 1
  • C. Metreweli
    • 1
  1. 1.The Departments of Nephrology, Histopathology and RadiologyThe Hospital for Sick ChildrenLondonEngland
  2. 2.The Purine Laboratory, Department of MedicineGuy's HospitalLondonEngland

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