UROLITHIASIS COMPOSED OF 2, 8-DIHYDROXYADENINE DUE TO PARTIAL DEFICIENCY OF ADENINE PHOSPHORIBOSYLTRANSFERASE
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- Kuroda Masao
- Department of Urology, the Center for Adult Diseases
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- Miki Tsuneharu
- Department of Urology, the Center for Adult Diseases
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- Kiyohara Hisakazu
- Department of Urology, the Center for Adult Diseases
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- Usami Michiyuki
- Department of Urology, the Center for Adult Diseases
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- Nakamura Takayuki
- Department of Urology, the Center for Adult Diseases
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- Kotake Toshihiko
- Department of Urology, the Center for Adult Diseases
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- Takemoto Masato
- Department of Urology, Osaka University Hospital
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- Sonoda Takao
- Department of Urology, Osaka University Hospital
Bibliographic Information
- Other Title
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- Adenine phosphoribosyltransferase 部分欠損症による尿路結石の1例
- Adenine phosphoribosyltransferase ブブン ケ
- Report of a Case
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Description
A 38-year-old male who had urolithiasis due to partial deficiency of adenine phosphoribosyltrans-ferase was presented.<br>The patient who had a past history of urolithiasis was admitted with complaints of left flank pain in January 1978. Plain X-ray films revealed no calcific shadow. Intravenous pyelography and retrograde pyelography showed radiolucent stones in the left upper urinary tract.<br>On January 18, 1978, left ureterolithotomy was performed. Stone analysis with the infrared spectrum, the ultraviolet spectrum, the mass spectrum and the X-ray diffraction spectrum showed that these stones were composed of 2, 8-dihydroxyadenine. Erythrocyte hemolysate activity of adenine phosphoribosyltransferase in the patient was about 30% of normal. Our case seemed to be a heterozygote for adenine phosphoribosyltransferase deficiency.<br>In literature three cases of 2, 8-dihydroxyadenine stone accompanied with complete deficiency of adenine phosphoribosyltransferase have been reported. No case of 2, 8-dihydroxyadenine stone accompanied with partial deficiency of adenine phosphoribosyltransferase has been reported.<br>It is said that deficiency of adenine phosphoribosyltransferase was inherited as an autosomal trait. Erythrocyte hemolysate activities of adenine phosphoribosyltransferase in the patient's family are under investigtaion.<br>The patient is maintained under administration of allopurinol 300mg per day. There is no recurrence of urolithiasis a year after operation.
Journal
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- The Japanese Journal of Urology
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The Japanese Journal of Urology 71 (3), 283-288, 1980
THE JAPANESE UROLOGICAL ASSOCIATION
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Keywords
Details 詳細情報について
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- CRID
- 1390282680452324480
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- NII Article ID
- 130006931255
- 110003046366
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- NII Book ID
- AN00196577
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- ISSN
- 18847110
- 00215287
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- NDL BIB ID
- 2212365
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- Data Source
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- JaLC
- NDL
- Crossref
- CiNii Articles
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- Abstract License Flag
- Disallowed
