Familial Hyperaldosteronism Type 3 with a Rapidly Growing Adrenal Tumor: An In Situ Aldosterone Imaging Study

Nae Takizawa, Susumu Tanaka, Koshiro Nishimoto, Yuki Sugiura, Makoto Suematsu, Chisato Ohe, Haruyuki Ohsugi, Yosuke Mizuno, Kuniaki Mukai, Tsugio Seki, Kenji Oki, Celso E. Gomez-Sanchez, Tadashi Matsuda

研究成果: Article査読

抄録

Primary aldosteronism is most often caused by aldosterone-producing adenoma (APA) and bi-lateral adrenal hyperplasia. Most APAs are caused by somatic mutations of various ion channels and pumps, the most common being the inward-rectifying potassium channel KCNJ5. Germ line mutations of KCNJ5 cause familial hyperaldosteronism type 3 (FH3), which is associated with severe hyperaldosteronism and hypertension. We present an unusual case of FH3 in a young woman, first diagnosed with primary aldosteronism at the age of 6 years, with bilateral adrenal hyperplasia, who underwent unilateral adrenalectomy (left adrenal) to alleviate hyperaldosteronism. However, her hyperaldosteronism persisted. At the age of 26 years, tomography of the remaining adrenal revealed two different adrenal tumors, one of which grew substantially in 4 months; therefore, the adrenal gland was removed. A comprehensive histological, immunohistochemical, and molecular evaluation of various sections of the adrenal gland and in situ visualization of aldosterone, using matrix-assisted laser desorption/ionization imaging mass spectrometry, was performed. Aldosterone synthase (CYP11B2) immunoreactivity was observed in the tumors and adrenal gland. The larger tumor also harbored a somatic β-catenin activating mutation. Aldosterone visualized in situ was only found in the subcapsular regions of the adrenal and not in the tumors. Collectively, this case of FH3 presented unusual tumor development and histological/molecular findings.

本文言語English
ページ(範囲)128-138
ページ数11
ジャーナルCurrent Issues in Molecular Biology
44
1
DOI
出版ステータスPublished - 2022 1月

ASJC Scopus subject areas

  • 微生物学
  • 分子生物学
  • 微生物学(医療)

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