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 o...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.921449/full |
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| author | Celso E. Gomez-Sanchez Celso E. Gomez-Sanchez Desmaré van Rooyen Desmaré van Rooyen William E. Rainey William E. Rainey Kazutaka Nanba Kazutaka Nanba Amy R. Blinder Radhakrishna Baliga |
| author_facet | Celso E. Gomez-Sanchez Celso E. Gomez-Sanchez Desmaré van Rooyen Desmaré van Rooyen William E. Rainey William E. Rainey Kazutaka Nanba Kazutaka Nanba Amy R. Blinder Radhakrishna Baliga |
| author_sort | Celso E. Gomez-Sanchez |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T15:45:09Z |
| format | Article |
| id | doaj.art-ab449a8b5c8f4c5d881794cc23a575eb |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-10T15:45:09Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-ab449a8b5c8f4c5d881794cc23a575eb2022-12-22T01:42:58ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-08-011310.3389/fendo.2022.921449921449Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenomaCelso E. Gomez-Sanchez0Celso E. Gomez-Sanchez1Desmaré van Rooyen2Desmaré van Rooyen3William E. Rainey4William E. Rainey5Kazutaka Nanba6Kazutaka Nanba7Amy R. Blinder8Radhakrishna Baliga9Endocrine Section, G.V. Sonny Montgomery VA Medical Center, Jackson, MS, United StatesDepartment of Pharmacology and Toxicology, University of Mississippi Medical Center, Jackson, MS, United StatesDepartment of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, United StatesDivision of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, United StatesDepartment of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, United StatesDivision of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, United StatesDepartment of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, United StatesDepartment of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, JapanDepartment of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, United StatesDivision of Nephrology, Department of Pediatrics, Louisiana State University, Shreveport, LA, United StatesAldosterone-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.https://www.frontiersin.org/articles/10.3389/fendo.2022.921449/fullprimary aldosteronismKCNJ5 mutationaldosteronepediatric hypertensionadrenal adenoma |
| spellingShingle | Celso E. Gomez-Sanchez Celso E. Gomez-Sanchez Desmaré van Rooyen Desmaré van Rooyen William E. Rainey William E. Rainey Kazutaka Nanba Kazutaka Nanba Amy R. Blinder Radhakrishna Baliga Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma Frontiers in Endocrinology primary aldosteronism KCNJ5 mutation aldosterone pediatric hypertension adrenal adenoma |
| title | Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma |
| title_full | Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma |
| title_fullStr | Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma |
| title_full_unstemmed | Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma |
| title_short | Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma |
| title_sort | primary aldosteronism caused by a pi157s somatic kcnj5 mutation in a black adolescent female with aldosterone producing adenoma |
| topic | primary aldosteronism KCNJ5 mutation aldosterone pediatric hypertension adrenal adenoma |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.921449/full |
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