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Published on: September 15, 2017
Apparent mineralocorticoid excess (AME) syndrome
1Department of Pediatrics, Pediatric Intensive Care Unit, Al-Jahra Hospital, Kuwait. dryparvez@gmail.com
Abstract:
Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension.This is a potentially fatal but treatable disorder. We present clinical and molecular studies on two sisters diagnosed as AME.
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