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

Research output: Contribution to journalArticlepeer-review

25 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)134-139
Number of pages6
JournalMolecular and Cellular Endocrinology
Publication statusPublished - 2017 Feb 5


  • Genetic mosaicism
  • Juvenile
  • KCNJ5
  • Primary aldosteronism

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology


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