apparent mineralocorticoid excess

apparent mineralocorticoid excess
(AME) a rare autosomal recessive enzyme deficiency syndrome caused by mutation in the HSD11B2 gene (locus: 16q22), which encodes 11β-hydroxysteroid dehydrogenase type 2; it is characterized by accumulation of cortisol in the kidney in spite of normal plasma cortisol levels, with resulting hypertension, hypokalemia, metabolic alkalosis, and low plasma renin and aldosterone levels.

Medical dictionary. 2011.

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