Greenwood M C, Dillon M J, Simmonds H A, Barratt T M, Pincott J R, Metreweli C
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.
一名四岁女童因二羟基腺嘌呤尿路结石导致肾衰竭。在此之前，她一直食用富含豆类和谷物的高嘌呤宏观biotic饮食。她昏迷、无尿，需要进行腹膜透析，超声检查和逆行肾盂造影显示双侧透光性肾结石。肾盂切开取石术中发现2,8 - 二羟基腺嘌呤结石，肾活检显示间质双折射晶体，随后在红细胞裂解物中发现完全缺乏腺嘌呤磷酸核糖转移酶（APRT）。入院时因输血导致APRT水平最初被错误地升高。母亲被证明为杂合子水平。该患儿用别嘌呤醇治疗成功，饮食中嘌呤减少，但肾功能仅部分恢复。
