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タイトル: | APRT部分欠損症による2,8-dihydroxyadenine結石症の2例 |
その他のタイトル: | Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase |
著者: | 大沢, 理 大原, 孝 小松, 洋輔 |
著者名の別形: | Osawa, Osamu Ohara, Takasi Komatz, Yosuke |
キーワード: | 2 8-Dihydroxyadenine stone Adenine phosphoribosyltransferase |
発行日: | Nov-1991 |
出版者: | 泌尿器科紀要刊行会 |
誌名: | 泌尿器科紀要 |
巻: | 37 |
号: | 11 |
開始ページ: | 1535 |
終了ページ: | 1538 |
抄録: | 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. |
URI: | http://hdl.handle.net/2433/117360 |
PubMed ID: | 1767776 |
出現コレクション: | Vol.37 No.11 |
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