ISSN:
1432-1076
Keywords:
2,8-dihydroxyadenine
;
adenine phosphoribosyl transferase
;
urolithiasis
;
allopurinol
;
renal failure
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442515
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