Гіпертензія внаслідок мутацій посилення функції мінералокортикоїдних рецепторів
ORPHA:88660· ICD-10 I15.1· Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Визначення(English summary)
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.