Somatic KCNJ5 mutation occurring early in adrenal development may cause a novel form of juvenile primary aldosteronism

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• 作者：Ai Tamura^a ; ¹ ; Koshiro Nishimoto^d ; ^e ; ¹ ; ^{k.nishimoto@keio.jp} ; Tsugio Seki^h ; Yoko Matsuzawa^a ; Jun Saito^a ; Masao Omura^a ; Celso E. Gomez-Sanchezⁱ ; Kohzoh Makita^a ; ^j ; Seishi Matsui^b ; Nobukazu Moriya^b ; Atsushi Inoue^c ; Maki Nagata^c ; Hironobu Sasano^k ; Yasuhiro Nakamura^k ; Yuto Yamazaki^k ; Yasuaki Kabe^e ; Kuniaki Mukai^e ; ^g ; Takeo Kosaka^f ; Mototsugu Oya^f ; Sachiko Suematsu^a ; Tetsuo Nishikawa^a ; ^{tetsuon@yokohamah.rofuku.go.jp}
• 关键词：Genetic mosaicism ; KCNJ5 ; Primary aldosteronism ; Juvenile
• 刊名：Molecular and Cellular Endocrinology
• 出版年：2017
• 出版时间：5 February 2017
• 年：2017
• 卷：441
• 期：Complete
• 页码：134-139
• 全文大小：2645 K
• 卷排序：441

文摘

We report a novel type of non-familial juvenile primary aldosteronism (PA). Bilateral adrenals had the same pathology: normal adrenal or hyperplasia. Hyperplasia harbored a KCNJ5 mutation, but normal adrenal did not. The mutation likely arose in mesodermal development and caused genetic mosaicism. The type of PA can be surgically treated by combination with super-selective adrenal venous sampling.