Apparent mineralocorticoid excess syndrome

Apparent mineralocorticoid excess syndrome, abbreviated AME, is an autosomal recessive disorder that causes high blood pressure, raised blood sodium and low blood potassium. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase type 2. In an unaffected person this enzyme inactivates circulating cortisol into the less active cortisone. When the enzyme is missing or impaired, cortisol stays high in aldosterone-sensitive tissues such as the kidney and, because the mineralocorticoid receptor is not selective, activates it and produces aldosterone-like effects. Patients often present with severe hypertension and the organ changes that follow it, along with growth retardation and failure to thrive, while serum aldosterone and renin are both low. Liquorice consumption can inhibit the same enzyme and cause the same picture. The record here describes what is held about the condition and is not medical advice.