Clinical diagnosis and treatment of apparent mineralocorticoid excess

Apparent mineralocorticoid excess (AME) is a rare inherited form of hypertension caused by 11 β-hydroxysteroid dehydrogenase type 2 (11 β-HSD) deficiency. In 1977 the disorder was first described biochemically and hormonally by New et al. in a Native American girl with severe hypertension. The exploration of the pathogenesis of AME opened a new area in receptor biology as a result of the demonstration that the specificity of the mineralocorticoid receptor (Mr) function depends on a metabolic enzyme (11βHSD2) rather than the receptor itself. The clinical manifestations of AME mimic those of excessive mineralocorticoid activity, but plasma levels of aldosterone and other known mineralocorticoids are not elevated. Affected patients may present with low birth weight, failure to thrive, severe hypertension, hypercalciuria, and renal failure. The hypertension is severe with onset in early childhood.