紀要論文 2,8-Dihydroxyadenine結石症の1例
A Case Report of 2, 8-Dihydroxyadenine Stone

山口, 峻介  ,  羽場, 知己  ,  小池, 宏

61 ( 7 )  , pp.279 - 283 , 2015-07 , 泌尿器科紀要刊行会
ISSN:0018-1994
NII書誌ID(NCID):AN00208315
内容記述
Here we report a case of a 2, 8-dihydroxyadenine (2, 8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effective. Transurethral ureterolithotripsy (TUL) was successful. An analysis of the stone revealed 2, 8-DHA. A 2, 8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency. By genetic tests, she was diagnosed with APRT deficiency.
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http://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/199578/1/61_7_279.pdf

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