Pessano B, Davì S, La Brocca A, Leone L
Ospedale Civile, Susa, Torino.
Minerva Med. 1989 May;80(5):507-9.
A case of hereditary xanthinuria in a 68-year-old man with congestive heart failure and alcoholic liver disease is presented. Urolithiasis and muscular symptoms were absent, and the metabolic error was revealed by hypouricemia, hypouricosuria and excess of xanthine and hypoxanthine excretion in urine. Xanthine oxidase (EC 1.2.3.2) activity in liver tissue was absent, confirming the diagnosis of xanthinuria.
本文报告一例68岁男性遗传性黄嘌呤尿症患者，该患者同时患有充血性心力衰竭和酒精性肝病。患者无尿石症和肌肉症状，通过低尿酸血症、低尿酸尿症以及尿中黄嘌呤和次黄嘌呤排泄过量揭示了代谢错误。肝组织中黄嘌呤氧化酶（EC 1.2.3.2）活性缺失，证实了黄嘌呤尿症的诊断。
