1. Kyoto University Research Information Repository
  2. 060　医学研究科・医学部・医学部附属病院
  3. 泌尿器科紀要
  4. Vol.45 No.6
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    このアイテムの引用には次の識別子を使用してください: http://hdl.handle.net/2433/114065
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dc.contributor.author石津, 和彦ja
dc.contributor.author白石, 晃司ja
dc.contributor.author河村, 英文ja
dc.contributor.author内藤, 克輔ja
dc.contributor.author高橋, 徹ja
dc.contributor.author吉村, 清ja
dc.contributor.author丹黒, 章ja
dc.contributor.author白濱, 秀也ja
dc.contributor.alternativeISHIZU, Kazuhikoen
dc.contributor.alternativeSHIRAISHI, Kojien
dc.contributor.alternativeKAWAMURA, Hidefumien
dc.contributor.alternativeNAITO, Katsusukeen
dc.contributor.alternativeTAKAHASHI, Toruen
dc.contributor.alternativeYOSHIMURA, Kiyoshien
dc.contributor.alternativeTANGOKU, Akiraen
dc.contributor.alternativeSHIRAHAMA, Syuyaen
dc.date.accessioned2010-05-27T05:31:44Z-
dc.date.available2010-05-27T05:31:44Z-
dc.date.issued1999-06-
dc.identifier.issn0018-1994-
dc.identifier.urihttp://hdl.handle.net/2433/114065-
dc.description.abstractA 44-year-old woman complained of headache and palpitation. Magnetic resonance imaging showed bilateral adrenal tumors 10 x 9 cm in size on the left side and 8 x 4 cm in size on the right side. CT scan revealed a 0.7 x 0.7 cm mass in the thyroid. Hormonal examinations showed high values of urinary cathecholamines and serum calcitonin. DNA sequence analysis of peripheral white blood cells revealed that codon 634 in exon 11 of the RET gene was mutated from TGC (Cys) to TAC (Tyr). From these findings, a diagnosis was made of MEN2A with bilateral adrenal pheochromocytomas and medullary thyroid carcinoma. Bilateral adrenalectomy and thyroidectomy were performed. The same mutation of the RET gene was detected in all her 3 children, in two of whom, early stage medullary thyroid carcinoma was detected and thyroidectomy was performed. DNA analysis of the RET gene was useful for the diagnosis of carriers of MEN2A and the early detection of medullary thyroid carcinoma.en
dc.format.mimetypeapplication/pdf-
dc.language.isojpn-
dc.publisher泌尿器科紀要刊行会ja
dc.subjectMultiple endocrine neoplasiaen
dc.subjectRET geneen
dc.subject.ndc494.9-
dc.titleRET遺伝子変異による多発性内分泌腫瘍症2A型(MEN2A)の1例ja
dc.title.alternativeA case of multiple endocrine neoplasia type 2A (MEN2A) with a mutation in the RET geneen
dc.typedepartmental bulletin paper-
dc.type.niitypeDepartmental Bulletin Paper-
dc.identifier.ncidAN00208315-
dc.identifier.jtitle泌尿器科紀要ja
dc.identifier.volume45-
dc.identifier.issue6-
dc.identifier.spage407-
dc.identifier.epage410-
dc.textversionpublisher-
dc.sortkey05-
dc.address山口大学医学部泌尿器科学教室ja
dc.address山口大学医学部泌尿器科学教室ja
dc.address山口大学医学部泌尿器科学教室ja
dc.address山口大学医学部泌尿器科学教室ja
dc.address山口大学医学部第3内科学教室ja
dc.address山口大学医学部第2外科学教室ja
dc.address山口大学医学部第2外科学教室ja
dc.address株式会社エスアールエル遺伝子染色体解析センターja
dc.address.alternativethe Department of Urology, Yamaguchi University School of Medicineen
dc.address.alternativethe Department of Urology, Yamaguchi University School of Medicineen
dc.address.alternativethe Department of Urology, Yamaguchi University School of Medicineen
dc.address.alternativethe Department of Urology, Yamaguchi University School of Medicineen
dc.address.alternativethe Third Department of Medicine, Yamaguchi University School of Medicineen
dc.address.alternativethe Second Department of Surgery, Yamaguchi University School of Medicineen
dc.address.alternativethe Second Department of Surgery, Yamaguchi University School of Medicineen
dc.address.alternativeCenterfor Molecular Biologyand Cytogenetics, S R L, Inc.en
dc.identifier.pmid10442282-
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.45 No.6

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