Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Orpha code: 88660OMIM code:

Definition

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.

Disease data
Classification

Disease

Synonyms
Early-onset hypertension with exacerbation in pregnancy
Nadciśnienie o wczesnym początku z zaostrzeniem w czasie ciąży
Nadciśnienie z powodu mutacji nabycia funkcji w receptorze mineralokortykoidowym
Pseudohyperaldosteronism type 2
ORPHA code
88660
OMIM code
-
ICD10 code
I15.1
ICD11 code
-

No additional description.

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