[一例腺嘌呤磷酸核糖转移酶部分缺乏所致的2,8-二羟基腺嘌呤结石]
[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].
作者信息
Kitami K, Kinoshita Y, Hosaka M
机构信息
Department of Urology, Yamato City Hospital.
出版信息
Hinyokika Kiyo. 1990 Jan;36(1):73-6.
A 37-year old female was admitted with a complaint of gross hematuria. Intravenous pyelography and retrograde pyelography showed right non-functioning kidney with a radiolucent stone in the ureter. Computerized tomographic scan revealed right hydronephrosis and ureteral stone. Ureterolithotomy was performed. Infrared spectrometric analysis of the stone revealed a 2,8-dihydroxyadenine calculus. The adenine phosphoribosyltransferase activity in red blood cells was partially deficient. After the operation the patient has been given 100 mg/day of allopurinol and is on a low purine diet. There have been no signs of recurrence.
一名37岁女性因肉眼血尿入院。静脉肾盂造影和逆行肾盂造影显示右肾无功能，输尿管内有透光结石。计算机断层扫描显示右肾积水和输尿管结石。进行了输尿管取石术。结石的红外光谱分析显示为2,8 - 二羟基腺嘌呤结石。红细胞中的腺嘌呤磷酸核糖转移酶活性部分缺乏。术后患者每天服用100毫克别嘌醇，并采用低嘌呤饮食。目前尚无复发迹象。
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