Cartier P, Hamet M, Perignon J L
Nouv Presse Med. 1980 Jun 7;9(25):1767-70.
Complete lack of adenine phosphoribosyltransferase (APRT) is a not uncommon cause of urinary lithiasis in young children. The calculi are made up of a very poorly soluble substance, 2,8-dihydroxyadenine, which results from the oxidation of adenine by xanthinoxidase. A study of the 7 cases of APRT deficiency hitherto published (including 5 cases with lithiasis) shows that the diagnosis is rarely made, since the conventional methods of urinary stone analysis are unable to distinguish dihydroxyadenine from uric acid. This form of lithiasis can be prevented by inhibiting xanthinoxidase with allopurinol. The remarkable efficacy of this treatment and the frequent severity of the disease should raise the possibility of 2,8-dihydroxyadenine lithiasis in very case of alleged uric acid lithiasis in young children.
腺嘌呤磷酸核糖转移酶（APRT）完全缺乏是幼儿尿路结石的一个常见病因。结石由一种极难溶解的物质2,8 - 二羟基腺嘌呤构成，它是腺嘌呤被黄嘌呤氧化酶氧化的产物。对迄今已发表的7例APRT缺乏症病例（包括5例有结石的病例）的研究表明，由于传统的尿路结石分析方法无法区分二羟基腺嘌呤和尿酸，所以这种疾病很少被诊断出来。通过用别嘌呤醇抑制黄嘌呤氧化酶可以预防这种形式的结石症。这种治疗方法的显著疗效以及该疾病的频繁严重性，应该使人们在怀疑幼儿患有尿酸结石的所有病例中都考虑到2,8 - 二羟基腺嘌呤结石症的可能性。
