Adrenalectomy Completely Cured Hypertension in Patients With Familial Hyperaldosteronism Type I Who Had Somatic KCNJ5 Mutation.
J Clin Endocrinol Metab
; 104(11): 5462-5466, 2019 11 01.
Article
en En
| MEDLINE
| ID: mdl-31287546
ABSTRACT
CONTEXT Familial hyperaldosteronism type I (FH-I) or glucocorticoid-remediable aldosteronism (GRA) is caused by unequal crossing over of the steroid 11ß-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. Somatic KCNJ5 mutations have not been reported in patients with GRA; therefore, the appropriate treatment and prognosis of such concurrent cases remain unknown. CASE DESCRIPTION Two siblings of a Taiwanese family with GRA were found to have adrenal adenomas and somatic KCNJ5 mutations. Complete clinical cure was achieved after unilateral adrenalectomy. Furthermore, the conversion site of the chimeric gene was identified by direct sequencing. CONCLUSIONS:
We report the coexistence of a somatic KCNJ5 mutation and GRA. Patients with GRA whose blood pressure management develops resistance to glucocorticoid treatment could therefore benefit from a lateralization test. The promising outcomes after unilateral adrenalectomy presented in this report offer new perspectives for further research into various PA subtypes.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Adrenalectomía
/
Canales de Potasio Rectificados Internamente Asociados a la Proteína G
/
Hiperaldosteronismo
/
Hipertensión
Tipo de estudio:
Prognostic_studies
Límite:
Aged
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Clin Endocrinol Metab
Año:
2019
Tipo del documento:
Article
País de afiliación:
Taiwán