Kario K, Matsuo T, Nakao K
Department of Internal Medicine, Awaji-Hokutan Public Clinic.
Nihon Ronen Igakkai Zasshi. 1991 Jan;28(1):63-8. doi: 10.3143/geriatrics.28.63.
A 74-year-old female with hereditary xanthinuria and xanthine stones is reported. She has a family history of consanguineous parents and a past history of right side nephrectomy due to a xanthine renal stone and vesicolithotomy of 3 bladder stones approximately 5 X 4 X 4 cm in size at the age of 58 and 71, respectively. Her young brother exhibited a slightly elevated urinary excretion of oxypurines. Laboratory examination showed a low serum level (0.3 mg/dl) and urinary excretion (1.56 mg/day) of uric acid, and high plasma and urine levels of oxypurines. No xanthine oxidase activity was detectably in duodenal mucosa by biopsy specimen obtained by duodenofiberscopy. Now she has another stone approximately 5 X 4 X 4 cm in her bladder. There have been are few elderly cases of hereditary xanthinuria with recurrent giant urolithiasis.
报道了一名74岁患有遗传性黄嘌呤尿症和黄嘌呤结石的女性。她有近亲结婚的家族史，既往有因黄嘌呤肾结石行右侧肾切除术的病史，分别在58岁和71岁时因3枚大小约为5×4×4 cm的膀胱结石行膀胱切开取石术。她的弟弟尿中氧嘌呤排泄略有升高。实验室检查显示血清尿酸水平低（0.3 mg/dl）、尿尿酸排泄量低（1.56 mg/天），血浆和尿液中氧嘌呤水平高。通过十二指肠纤维镜检查获取的活检标本在十二指肠黏膜中未检测到可检测到的黄嘌呤氧化酶活性。现在她膀胱里又有一枚大小约为5×4×4 cm的结石。遗传性黄嘌呤尿症合并复发性巨大尿路结石的老年病例很少见。
