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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Mineralocorticoid Excess Syndrome, Apparent
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors > Mineralocorticoid Excess Syndrome, Apparent

Término preferido

Mineralocorticoid Excess Syndrome, Apparent  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Etiquetas alternativas

  • Apparent Mineralocorticoid Excess Syndrome

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-BPBPM6NP-5

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RDF/XML TURTLE JSON-LD Creado 9/7/03, última modificación 5/7/06