title: Apparent mineralocorticoid excess (AME) syndrome.
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.
authors.affiliation: Department of Pediatrics, Pediatric Intensive Care Unit, Al-Jahra Hospital, Kuwait. dryparvez@gmail.com
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Parvez
authors.forename: Ola El
authors.initials: OE
authors.lastname: Sayed
mesh_terms: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2 / Q000235:genetics; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D043204:Mineralocorticoid Excess Syndrome, Apparent / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D009154:Mutation
chemical_list: D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2