Primary Aldosteronism Caused by a PI157S Somatic KCNJ5 Mutation in a Black Adolescent Female With Aldosterone-producing Adenoma


Aldosterone-producing adenoma is a rare cause of hypertension in children. Only a limited number of cases of aldosterone-producing adenomas with somatic KCNJ5 gene mutations have been described in children. Blacks are particularly more susceptible to developing long-standing cardiovascular effects of aldosterone-induced severe hypertension. Somatic CACNA1D gene mutations are particularly more prevalent in black males whereas KCNJ5 gene mutations are most frequently present in black females. We present here a novel somatic KCNJ5 p.I157S mutation in an aldosterone-producing adenoma from a 16-year-old black female whose severe drug-resistant hypertension significantly improved following unilateral adrenalectomy. Prompt diagnosis of aldosterone-producing adenoma and early identification of gene mutation would enable appropriate therapy and significantly reduce cardiovascular sequelae.

Authors: Celso E. Gomez-Sanchez, Desmaré van Rooyen, William E. Rainey, Kazutaka Nanba, Amy R. Blinder, Radhakrishna Baliga
Keywords: KCNJ5, mutation, age, race
DOI Number: 10.3389/fendo.2022.921449      Publication Year: 2022

To search for other research papers by topic, keyword, author, or year, please go to our Publications page.