Description

Apparent mineralocorticoid excess (AME) is a form of hereditary hypertension that is cortisol-mediated.


 

Inheritance: autosomal recessive

 

Mutation: Type 2 isoenzyme of 11-beta hydroxysteroid dehydrogenase

 

Effect: reduced activity, with decreased metabolism of cortisol to cortisone

 

Clinical features:

(1) hypertension

(2) low plasma renin and aldosterone concentrations

(3) normal serum cortisol level with increased half life

(4) increased ratio of urine cortisol to cortisone in a 24 hour urine

(5) therapeutic response to high doses of spironolactone or amiloride

 


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