Syndrome of Apparent Mineralocorticoid Excess

From Wikipedia, the free encyclopedia

Syndrome of Apparent Mineralocorticoid Excess Classification and external resources
OMIM	218030
DiseasesDB	12740
MeSH	D043204

Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase. 11β-hydroxysteroid dehydrogenase in a normal patient inactivates circulating cortisol to the less-active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome.

Licorice ingestion due to its ability to block 11β-hydroxysteroid dehydrogenase type 2 by glycyrrhetinic acid may also cause AME due to increased activity of cortisol.