The full form of AME in medical term is “Apparent Mineralocorticoid Excess.”
Apparent mineralocorticoid excess (AME) is a rare genetic disorder that affects the body’s regulation of salt and water balance. It is caused by mutations in the gene encoding 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), an enzyme that converts the hormone cortisol to its inactive form, cortisone.
The symptoms of AME can vary but typically include high blood pressure, low blood potassium levels, and metabolic alkalosis. Individuals with AME may develop hypertension, electrolyte imbalances, and even kidney failure in severe cases.
Diagnosis of AME typically involves genetic testing to identify mutations in the 11β-HSD2 gene. Other tests may include measuring cortisol and aldosterone levels and sodium, potassium, and bicarbonate levels in the blood and urine.
AME treatment typically involves using medications that block the effects of aldosterone, such as spironolactone and eplerenone. Sometimes, a low-salt diet and potassium supplements may also be recommended. Monitoring blood pressure, electrolyte levels, and kidney function is important to prevent complications.
Normally, cortisol, a hormone the adrenal gland produces, acts on the kidneys to increase reabsorption and promote potassium excretion. This process helps to maintain the body’s salt and water balance. However, in individuals with AME, the mutated 11β-HSD2 enzyme cannot convert cortisol to cortisone effectively. It leads to an excess of aldosterone-like effects, hence the “apparent mineralocorticoid excess.”