A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone-producing adenoma

Noboru Uchida, Naoko Amano, Yui Yamaoka, Ayumi Uematsu, Yuji Sekine, Makoto Suzuki, Jun Watanabe, Koshiro Nishimoto, Kuniaki Mukai, Ryuji Fukuzawa, Tomonobu Hasegawa, Tomohiro Ishii

研究成果: Article査読

3 被引用数 (Scopus)


Aldosterone-producing adenoma (APA), a subtype of primary aldosteronism, is a common cause of secondary hypertension in adults. Somatic KCNJ5 mutations have been identified in about 12%-80% of adult-onset APA. In contrast, there has been no previous reported case of pediatric-onset APA in whom a somatic KCNJ5 mutation was confirmed. We report an 11-year-old Japanese girl who had experienced recurrent headaches and nausea for more than 2 years before hypertension was observed (blood pressure, 150/82 mm Hg). Plasma renin activity was <0.1 ng/mL per hour even after a captopril-challenge or upright furosemide-loading test. Plasma aldosterone concentrations (PACs) before and after saline-infusion test were 28.0 and 40.6 ng/dL, respectively. Plasma adrenocorticotropic hormone (ACTH) and serum cortisol levels were 16.5 pg/mL and 16.7 mg/dL, respectively. The patient was diagnosed with APA in the left adrenal gland on the basis of selective adrenal venous sampling after ACTH stimulation (PAC in the left adrenal vein, 3630 ng/dL) and histopathologic findings of the tumor obtained by laparoscopic left adrenalectomy. Sanger sequencing ofKCNJ5 using genomicDNAfrom peripheral lymphocytes and laser-captured microdissected APA tissues demonstrated the presence of a somatic KCNJ5 mutation p.L168R, previously reported only in adult-onset APA. Immunohistochemistry detected strong immunoreactivity for CYP11B2, but not for CYP11B1 in the APA, consistent with the endocrinologic findings in this patient. Somatic KCNJ5 mutations are also identified in pediatric-onset APA. Further cases are needed to elucidate functional characteristics of pediatric-onset APA with a somatic KCNJ5 mutation.

ジャーナルJournal of the Endocrine Society
出版ステータスPublished - 2017 8月

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学


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