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

Ai Tamura, Koshiro Nishimoto, Tsugio Seki, Yoko Matsuzawa, Jun Saito, Masao Omura, Celso E. Gomez-Sanchez, Kohzoh Makita, Seishi Matsui, Nobukazu Moriya, Atsushi Inoue, Maki Nagata, Hironobu Sasano, Yasuhiro Nakamura, Yuto Yamazaki, Yasuaki Kabe, Kuniaki Mukai, Takeo Kosaka, Mototsugu Oya, Sachiko SuematsuTetsuo Nishikawa

研究成果: Article査読

17 被引用数 (Scopus)

抄録

We report a case of non-familial juvenile primary aldosteronism (PA). Super-selective adrenal venous sampling identified less aldosterone production in the right inferior adrenal segment than others. Bilateral adrenalectomy sparing the segment normalized blood pressure and improved PA. Both adrenals had similar histologies, consisting of a normal adrenal cortex and aldosterone synthase-positive hyperplasia/adenoma. An aldosterone-driving KCNJ5 mutation was detected in the lesions, but not in the histologically normal cortex. After taking into account that the two adrenal glands displayed a similar histological profile, as well as the fact that hyperplastic lesions in both glands exhibited a common KCNJ5 mutation, we conclude that the specific mutation may have occurred at an adrenal precursor mesodermal cell, at an early stage of development; its daughter cells were mixed with non-mutant cells and dispersed into both adrenal glands, resulting into a form of the condition known as genetic mosaicism.

本文言語English
ページ(範囲)134-139
ページ数6
ジャーナルMolecular and Cellular Endocrinology
441
DOI
出版ステータスPublished - 2017 2 5

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 内分泌学

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