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 gene mutations have been described in children. Blacks are particularly more susceptible to developing long-standing cardiovascular effects of aldo...
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Published in | Frontiers in endocrinology (Lausanne) Vol. 13; p. 921449 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
Frontiers Media S.A
16.08.2022
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | Reviewed by: Madson Almeida, University of São Paulo, Brazil; Livia Lenzini, University of Padua, Italy; Anli Tong, Peking Union Medical College Hospital (CAMS), China Edited by: Norlela Sukor, Universiti Kebangsaan Malaysia Medical Center (UKMMC), Malaysia This article was submitted to Adrenal Endocrinology, a section of the journal Frontiers in Endocrinology |
ISSN: | 1664-2392 1664-2392 |
DOI: | 10.3389/fendo.2022.921449 |