Apparent mineralocorticoid excess.
Apparent mineralocorticoid excess (AME) is a potentially fatal genetic disorder causing severe juvenile hypertension, pre- and postnatal growth failure, hypokalemia and low to undetectable levels of renin and aldosterone. It is caused by autosomal recessive mutations in the HSD11B2 gene, which result in a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2). The 11 beta-HSD2 enzyme is responsible for the conversion of cortisol to the inactive metabolite cortisone and, therefore, protects the mineralocorticoid receptors from cortisol intoxication. In 1998, a mild form of this disease was reported, which might represent an important cause of low-renin hypertension. Early and vigilant treatment might prevent or improve the morbidity and mortality of end-organ damage.
Wilson
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Pediatric Endocrinology, New York-Presbyterian Hospital and the Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA.
Nimkarn
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New
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D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; D003241:Consanguinity; D003348:Cortisone / Q000378:metabolism; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D006913:Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D006973:Hypertension / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D013577:Syndrome
D006913:Hydroxysteroid Dehydrogenases; D043209:11-beta-Hydroxysteroid Dehydrogenase Type 2; C468387:HSD11B2 protein, human; D003348:Cortisone; D006854:Hydrocortisone