Mineralocorticoid Excess Syndrome, Apparent [syndrom zdánlivého nadbytku mineralokortikoidů]

topical
2
Terms

Apparent Mineralocorticoid Excess Syndrome
Cortisol 11-beta-Ketoreductase Deficiency

Persistent link   https://www.medvik.cz/link/D043204
Definition

A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.

DUI
D043204 MeSH Browser
CUI
M0442605
Previous indexing
Metabolism, Inborn Errors (1977-2003)
History note
2004
Public note
2004