Wilkinson Hazel, Samuell Colin, Stower Michael
Department of Biochemistry, York Hospital, York, YO31 8HE, UK.
Ann Clin Biochem. 2004 Mar;41(Pt 2):160-1. doi: 10.1258/000456304322880087.
A case is presented of a 41-year-old man with a history of recurrent renal stones over 10 years. Analysis of the stone showed that, although it gave a positive reaction with the non-specific phosphotungstic acid test, uricase failed to identify any urate present. Analysis in a reference laboratory confirmed its composition as dihydroxyadenine. Patients who are homozygous for the rare autosomal-recessive adenine phosphoribosyltransferase deficiency, excrete large amounts of 2,8-dihydroxyadenine, which has poor solubility at normal urinary pH. Treatment with the xanthine oxidase inhibitor allopurinol induces a total cessation of stone formation. Increased awareness of the condition and knowledge of the limitations of some methods of laboratory analysis for renal stones should help to identify this type of stone and prevent renal damage.
本文报告一例41岁男性，有超过10年的复发性肾结石病史。结石分析显示，尽管其对非特异性磷钨酸试验呈阳性反应，但尿酸酶未能鉴定出任何存在的尿酸盐。参考实验室的分析证实其成分为二羟基腺嘌呤。罕见常染色体隐性腺嘌呤磷酸核糖转移酶缺乏症的纯合子患者会排泄大量的2,8 - 二羟基腺嘌呤，其在正常尿液pH值下溶解度较差。用黄嘌呤氧化酶抑制剂别嘌呤醇治疗可使结石形成完全停止。提高对该病症的认识以及了解某些肾结石实验室分析方法的局限性，应有助于识别此类结石并预防肾脏损害。
