臨床泌尿器科72巻6号

2018年05月発行

特集 副腎疾患の基礎と臨床─最前線を知る

〈基礎〉

副腎皮質腫瘍の遺伝子変異

著者： 難波多挙¹

所属機関： ¹

ページ範囲：P.430 - P.434

文献概要

▶ポイント

・アルドステロン産生腺腫の半数以上でKCNJ5，ATP1A1，ATP2B3，CACNA1D遺伝子のいずれかに体細胞変異がみられる．

・日本を含む東アジアではアルドステロン産生腺腫のKCNJ5変異陽性率が高い．

・顕性クッシング症候群を生じる副腎皮質腺腫においてPRKACA遺伝子の活性型変異が高率に認められる．

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