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dc.contributor.author大嶺, 卓司ja
dc.contributor.author藤戸, 章ja
dc.contributor.author古賀, 和美ja
dc.contributor.author今出, 陽一朗ja
dc.contributor.author内田, 睦ja
dc.contributor.alternativeOHNE, Takujien
dc.contributor.alternativeFUJITO, Akiraen
dc.contributor.alternativeKOGA, Kazumien
dc.contributor.alternativeIMAIDE, Yoichirohen
dc.contributor.alternativeUCHIDA, Mutsumien
dc.date.accessioned2010-05-28T06:22:40Z-
dc.date.available2010-05-28T06:22:40Z-
dc.date.issued1998-10-
dc.identifier.issn0018-1994-
dc.identifier.urihttp://hdl.handle.net/2433/116272-
dc.description.abstractA 35-year-old female was referred to our clinic with a complaint of left flank pain in 1993. Drip infusion pyelography showed a filling defect of 25 x 24 mm in size in the left ureteropelvic junction. Computed tomography and ultrasonography revealed it as the renal stone. Percutaneous nephroureterolithotomy and extracorporeal shock-were lithotomy were performed. The stone was composed of 2, 8-dihydroxyadenine (DHA). The patient was diagnosed as having a partial deficiency of adenine phosphoribosyltransferase (APRT) from the low APRT activity and a genotype of a compound heterozygote APRT*J/APRT*Q0 by T-cell analysis. The urinary excretion of 2, 8-DHA crystals disappeared by the postoperative treatment with allopurinol. Cases of 2, 8-DHA urolithiasis reported in the Japanese literature are discussed.en
dc.format.mimetypeapplication/pdf-
dc.language.isojpn-
dc.publisher泌尿器科紀要刊行会ja
dc.subject2en
dc.subject8-dihydroxyadenine urolithiasisen
dc.subjectAdenine phosphoribosyltransferase deficiencyen
dc.subjectCompound heterozygoteen
dc.subject.ndc494.9-
dc.titleAdenine phosphoribosyltransferase(APRT)部分欠損症(複合ヘテロ接合体)による2,8-Dihydroxyadenine結石の1例ja
dc.title.alternative2, 8-Dihydroxyadenine Urolithiasis due to Partial Deficiency of Adenine Phosphoribosyltransferase: a Case Reporten
dc.typedepartmental bulletin paper-
dc.type.niitypeDepartmental Bulletin Paper-
dc.identifier.ncidAN00208315-
dc.identifier.jtitle泌尿器科紀要ja
dc.identifier.volume44-
dc.identifier.issue10-
dc.identifier.spage725-
dc.identifier.epage728-
dc.textversionpublisher-
dc.sortkey07-
dc.address古賀総合病院ja
dc.address古賀総合病院ja
dc.address古賀総合病院ja
dc.address京都府立医科大学泌尿器科学教室ja
dc.address京都府立医科大学泌尿器科学教室ja
dc.address.alternativethe Department of Urology, Koga General Hospitalen
dc.address.alternativethe Department of Urology, Koga General Hospitalen
dc.address.alternativethe Department of Urology, Koga General Hospitalen
dc.address.alternativethe Department of Urology, Kyoto Prefectural University of Medicineen
dc.address.alternativethe Department of Urology, Kyoto Prefectural University of Medicineen
dc.identifier.pmid9850838-
dcterms.accessRightsopen access-
dc.identifier.pissn0018-1994-
dc.identifier.jtitle-alternativeActa urologica Japonicala
dc.identifier.jtitle-alternativeHinyokika Kiyoen
出現コレクション:Vol.44 No.10

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