title: Pseudohyperaldosteronism: pathogenetic mechanisms.
abstract: Pseudohyperaldosteronism is characterized by a clinical picture of hyperaldosteronism with suppression of plasma renin activity and aldosterone. Pseudohyperaldosteronism can be due to a direct mineralocorticoid effect, as with desoxycorticosterone, fluorohydrocortisone, fluoroprednisolone, estrogens, and the ingestion of high amounts of glycyrrhetinic acid. A block of 11-hydroxysteroid-dehydrogenase type 2 (11HSD2), the enzyme that converts cortisol into cortisone, at the level of epithelial target tissues of aldosterone, is involved in other cases. This mechanism is related either to a mutation of the gene, which encodes 11HSD2 (apparent mineralocorticoid excess syndrome and some cases of low renin hypertension) or to an acquired reduction of the activity of the enzyme due to glycyrrhetinic acid, carbenoxolone, and grapefruit juice. In other cases saturation of 11HSD2 may be involved as in severe Cushing's syndrome and chronic therapy with some corticosteroids. Recently, an activating mutation of the mineralocorticoid receptor gene has been described. Another genetic cause of pseudohyperaldosteronism is the syndrome of Liddle, which is due to a mutation of the gene encoding for beta and gamma subunits of the sodium channels.
authors.affiliation: Department of Medical and Surgical Sciences-Endocrinology, University of Padua, via Ospedale 105, 35100 Padua, Italy.
authors.forename: Decio
authors.initials: D
authors.lastname: Armanini
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Calò
authors.forename: Andrea
authors.initials: A
authors.lastname: Semplicini
mesh_terms: D042842:11-beta-Hydroxysteroid Dehydrogenases / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D000450:Aldosterone / Q000097:blood; D006801:Humans; D006929:Hyperaldosteronism / Q000209:etiology* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D013577:Syndrome
chemical_list: D000450:Aldosterone; D042842:11-beta-Hydroxysteroid Dehydrogenases