Genetic and clinical features of two cases with familial hyperaldosteronism type Ⅲ / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 164-167, 2024.
Article
en Zh
| WPRIM
| ID: wpr-1028630
Biblioteca responsable:
WPRO
ABSTRACT
Familial hyperaldosteronism type Ⅲ(FH-Ⅲ) is extremely rare, and there are no reported cases in China. Herein, we reported two cases with FH Ⅲ, both of which presented with severe hypertension and hypokalemia in their early childhood. One patient had significantly enlarged adrenal glands and developed clinical manifestations of Cushing′s syndrome at the age of 20. Complete relief of symptoms was achieved after bilateral adrenalectomy. The other case had normal adrenal imaging, and with spironolactone treatment, blood pressure and potassium levels were well-controlled. Both cases had germline mutation of KCNJ5 gene which were c. 433G>C(p.Glu145Gln) and c. 452G>A(p.Gly151Glu), respectively.
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Base de datos:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Endocrinology and Metabolism
Año:
2024
Tipo del documento:
Article