Apparent mineralocorticoid excess syndrome (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroiddehydrogenase type 2. In an unaffected person, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the Aldosterone sensitive tissues like the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor due to the non-selectivity of the receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome. Patients often present with severe hyperetension and end-organ changes associated with it like left ventricular hypertrophy, retinal, renal and neurological vascular changes along with growth retardation and failure to thrive.
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Contact the Genetic and Rare Diseases (GARD) Information Center for more information on apparent mineralocorticoid excess syndrome.
For more information on rare genetic disorder, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
