Mineralocorticoid Excess Syndrome, Apparent

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.

Year introduced: 2004

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Tree Number(s): C16.320.565.925.500, C18.452.648.925.500

MeSH Unique ID: D043204

Entry Terms:

• Cortisol 11-beta-Ketoreductase Deficiency
• 11-beta-Ketoreductase Deficiency, Cortisol
• Cortisol 11-beta-Ketoreductase Deficiencies
• Cortisol 11 beta Ketoreductase Deficiency
• Deficiency, Cortisol 11-beta-Ketoreductase
• Apparent Mineralocorticoid Excess Syndrome

Previous Indexing:

• Metabolism, Inborn Errors (1977-2003)

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
Mineralocorticoid Excess Syndrome, Apparent

All MeSH Categories
Diseases Category
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Steroid Metabolism, Inborn Errors
Mineralocorticoid Excess Syndrome, Apparent