Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Steroid Metabolism, Inborn Errors » Mineralocorticoid Excess Syndrome, Apparent
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Steroid Metabolism, Inborn Errors » Mineralocorticoid Excess Syndrome, Apparent
Description
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. MeSH
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