[Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].
[Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].
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腺嘌呤磷酸核糖转移酶部分缺乏的2.8-二羟基腺嘌呤结石2例[J].
DOI：
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发表时间：
1991
期刊：
影响因子：
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通讯作者：
Y. Komatz
中科院分区：
文献类型：
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作者：
O. Osawa;T. Ohara;Y. Komatz
我们报道了两例由于腺嘌呤磷酸核糖转移酶部分缺乏而导致的 2.8-二羟基腺嘌呤结石。第一位患者是一名41岁的女性。放射学检查发现左侧肾结石和肾收缩。进行了左肾切除术。结石的红外光谱分析显示为 2.8-二羟基腺嘌呤结石。淋巴细胞(T细胞)腺嘌呤磷酸核糖转移酶活性为对照水平的19.5%。手术后，患者给予别丙诺300毫克/天。目前还没有复发的迹象。第二名患者是一名52岁男性。放射学检查发现右肾和膀胱有射线可透的结石。进行了经皮肾镜取石术和膀胱碎石术。结石的红外光谱分析显示为 2.8-二羟基腺嘌呤结石。淋巴细胞（T细胞）中的腺嘌呤磷酸核糖转移酶活性为对照水平的21%。手术后，患者每天服用 200 毫克别丙醇，并进行低嘌呤饮食。目前还没有复发的迹象。
We report two cases of 2.8-dihydroxyadenine stones due to partial deficiency of adenine phosphoribosyltransferase. The first patient is a 41-year-old female. Radiologic examination revealed left radiolucent renal stones and contracted kidney. Left nephrectomy was performed. Infrared spectrometric analysis of the stones revealed 2.8-dihydroxyadenine calculi. The adenine phosphoribosyltransferase activity in lymphocyte (T cell) was 19.5% of the control level. After the operation, the patient was given 300 mg/day of alloprinol. There have been no signs of recurrence. The second patient was a 52-year-old male. Radiologic examination revealed radiolucent stones of the right kidney and the urine bladder. Percutaneous nephrolithotomy and cystolithotripsy were performed. Infrared spectrometric analysis of the stones revealed 2.8-dihydroxyadenine calculi. The adenine phosphoribosyltransferase activity in the lymphocytes (T cell) was 21% of the control level. After the operation the patient was given 200 mg/day of alloprinol and put on a low purine diet. There have been no signs of recurrence.