title: Somatic KCNJ5 mutation occurring early in adrenal development may cause a novel form of juvenile primary aldosteronism.
abstract: 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.
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Ai
authors: A
authors: Tamura
authors: Department of Uro-Oncology, Saitama Medical University International Medical Center, Hidaka, 350-1241, Japan; Department of Biochemistry, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. Electronic address: k.nishimoto@keio.jp.
authors: Koshiro
authors: K
authors: Nishimoto
authors: Department of Medical Education, School of Medicine, California University of Science and Medicine, 1405 West Valley Blvd #101, Colton, CA 92324, USA.
authors: Tsugio
authors: T
authors: Seki
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Yoko
authors: Y
authors: Matsuzawa
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Jun
authors: J
authors: Saito
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Masao
authors: M
authors: Omura
authors: Endocrinology Section, G.V. (Sonny) Montgomery VA Medical Center and University of Mississippi Medical Center, Jackson, MS 39216, USA.
authors: Celso E
authors: CE
authors: Gomez-Sanchez
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan; Department of Radiology, Nerima Hikarigaoka Hospital, Tokyo, 179-0072, Japan.
authors: Kohzoh
authors: K
authors: Makita
authors: Department of Radiology, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Seishi
authors: S
authors: Matsui
authors: Department of Radiology, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Nobukazu
authors: N
authors: Moriya
authors: Department of Urology, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Atsushi
authors: A
authors: Inoue
authors: Department of Urology, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Maki
authors: M
authors: Nagata
authors: Department of Pathology, Tohoku University School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575, Japan.
authors: Hironobu
authors: H
authors: Sasano
authors: Department of Pathology, Tohoku University School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575, Japan.
authors: Yasuhiro
authors: Y
authors: Nakamura
authors: Department of Pathology, Tohoku University School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575, Japan.
authors: Yuto
authors: Y
authors: Yamazaki
authors: Department of Biochemistry, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Yasuaki
authors: Y
authors: Kabe
authors: Department of Biochemistry, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan; Medical Education Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Kuniaki
authors: K
authors: Mukai
authors: Department of Urology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Takeo
authors: T
authors: Kosaka
authors: Department of Urology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
authors: Mototsugu
authors: M
authors: Oya
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan.
authors: Sachiko
authors: S
authors: Suematsu
authors: Endocrinology & Diabetes Center, Yokohama Rosai Hospital, Yokohama, 222-0036, Japan. Electronic address: tetsuon@yokohamah.rofuku.go.jp.
authors: Tetsuo
authors: T
authors: Nishikawa
mesh_terms: D000311:Adrenal Glands / Q000196:embryology* / Q000473:pathology*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D007150:Immunohistochemistry; D009154:Mutation / Q000235:genetics*
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C484274:KCNJ5 protein, human
keywords: Genetic mosaicism; Juvenile; KCNJ5; Primary aldosteronism