Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma.
Front Endocrinol (Lausanne)
; 13: 921449, 2022.
Article
en En
| MEDLINE
| ID: mdl-36051386
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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Adenoma
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Neoplasias de la Corteza Suprarrenal
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Adenoma Corticosuprarrenal
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Hiperaldosteronismo
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Hipertensión
Límite:
Adolescent
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Front Endocrinol (Lausanne)
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos