/pseudohyperaldosteronism type 2

pseudohyperaldosteronism type 2

Rare Disease

MONDO:0011517

Also Known As

early-onset hypertension with exacerbation in pregnancyhypertension due to gain-of-function mutations in the mineralocorticoid receptorhypertension, early-onset, autosomal dominant, with exacerbation in pregnancyhypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancyhypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy

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.