期刊
MOLECULAR AND CELLULAR ENDOCRINOLOGY
卷 441, 期 C, 页码 134-139出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mce.2016.07.031
关键词
Genetic mosaicism; KCNJ5; Primary aldosteronism; Juvenile
资金
- JSPS KAKENHI [15K10650, 26461387]
- Yamaguchi Endocrine Research Foundation
- Japanese Ministry of Health, Labour and Welfare
- NIH [HL27255]
- Initiative for Rare and Undiagnosed Patients from AMED
- Grants-in-Aid for Scientific Research [15K10650, 15K07011, 26461387] Funding Source: KAKEN
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 byperplasia/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. (C) 2016 The Authors. Published by Elsevier Ireland Ltd.
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