Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma

• Published in: Frontiers in endocrinology (Lausanne) Vol. 13; p. 921449
• Main Authors: Gomez-Sanchez, Celso E, van Rooyen, Desmaré, Rainey, William E, Nanba, Kazutaka, Blinder, Amy R, Baliga, Radhakrishna
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 16.08.2022
• Subjects: Adenoma - complications; Adenoma - genetics; Adolescent; adrenal adenoma; Adrenal Cortex Neoplasms - complications; Adrenal Cortex Neoplasms - genetics; Adrenocortical Adenoma - complications; Adrenocortical Adenoma - genetics; Aldosterone; Child; Endocrinology; Female; G Protein-Coupled Inwardly-Rectifying Potassium Channels - genetics; Humans; Hyperaldosteronism - genetics; Hypertension - complications; KCNJ5 mutation; Male; Mutation; pediatric hypertension; primary aldosteronism; pediatric hypertension; KCNJ5 mutation; adrenal adenoma; aldosterone; primary aldosteronism
• ISSN: 1664-2392; 1664-2392
• DOI: 10.3389/fendo.2022.921449

Aldosterone-producing adenoma is a rare cause of hypertension in children. Only a limited number of cases of aldosterone-producing adenomas with somatic gene mutations have been described in children. Blacks are particularly more susceptible to developing long-standing cardiovascular effects of aldosterone-induced severe hypertension. Somatic gene mutations are particularly more prevalent in black males whereas gene mutations are most frequently present in black females. We present here a novel somatic 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.