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 ca used by autosomal recessive mutations in the HSD11B2 gene, wh ich 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 metebolite 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.