Familial hyperaldosteronism
rareFamilial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.
- Identifiers
- MONDO:0016525 Orphanet:235936Orphanet:371861
- Also known as
- FH · genetic hyperaldosteronism · hereditary hyperaldosteronism
Subtypes
- Aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0014200 CACNA1D
- Familial hyperaldosteronism type II MONDO:0011576 CLCN2
- Familial hyperaldosteronism type III MONDO:0013359 KCNJ5
- Glucocorticoid-remediable aldosteronism MONDO:0007080 CYP11B1
- Hyperaldosteronism, familial, type IV MONDO:0014875 CACNA1H
Projects
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