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雑誌文献

臨床検査66巻6号

2022年06月発行

文献概要

今月の特集2 良性腫瘍の病理と遺伝子異常

副腎皮質腫瘍

著者: 西本紘嗣郎12 馬越洋宜3 向井邦晃2

所属機関: 1埼玉医科大学国際医療センター泌尿器腫瘍科 2慶應義塾大学医学部医化学教室 3九州大学大学院医学研究院病態制御内科学(第三内科)

ページ範囲:P.734 - P.741

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●原発性アルドステロン症とCushing症候群の診断は,それぞれアルドステロン産生とコルチゾール産生の調節メカニズムを利用する内分泌検査所見に基づく.

●アルドステロンとコルチゾールの産生病変の病理診断には,それぞれの合成経路に特異的な酵素であるCYP11B2とCYP11B1の免疫組織化学的検出が行われる.

●アルドステロンの過剰産生細胞には,KCNJ5遺伝子変異などの細胞内カルシウム濃度上昇をきたす遺伝子変異が知られる.

●コルチゾールの過剰産生細胞には,PRKACA遺伝子変異などの細胞内サイクリックAMPの濃度上昇をきたす遺伝子変異が知られる.

参考文献

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2)Nishimoto K, Seki T, Kurihara I, et al:Case Report: Nodule Development From Subcapsular Aldosterone-Producing Cell Clusters Causes Hyperaldosteronism. J Clin Endocrinol Metab 101:6-9,2016
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16)Beuschlein F, Fassnacht M, Assié G, et al:Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med 370:1019-1028,2014
17)Goh G, Scholl UI, Healy JM, et al:Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat Genet 46:613-617,2014
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19)Cao Y, He M, Gao Z, et al:Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science 344:913-917,2014

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

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