What is Pseudohyperaldosteronism

Pseudohyperaldosteronism, also known as apparent mineralocorticoid excess (AME), is a rare genetic disorder that affects the body's ability to regulate sodium and potassium levels. It is characterized by symptoms similar to those seen in primary hyperaldosteronism, a condition where the adrenal glands produce excessive amounts of aldosterone hormone. However, in pseudohyperaldosteronism, the aldosterone levels are normal or low.

AME is caused by mutations in the gene encoding the enzyme 11-beta-hydroxysteroid dehydrogenase type 2 (11β-HSD2). This enzyme is responsible for inactivating cortisol, a hormone that can bind to the mineralocorticoid receptor and mimic the effects of aldosterone. When 11β-HSD2 is impaired, cortisol is not properly inactivated, leading to increased mineralocorticoid receptor activation and sodium retention.

The condition typically presents in infancy or early childhood and may manifest as high blood pressure, low potassium levels, and metabolic alkalosis. Affected individuals may also experience excessive thirst, frequent urination, muscle weakness, and growth retardation.

Diagnosis of pseudohyperaldosteronism involves genetic testing to identify mutations in the 11β-HSD2 gene. Treatment options include medications that block the effects of aldosterone or cortisol, as well as dietary modifications to manage electrolyte imbalances.

Early detection and management of pseudohyperaldosteronism are crucial to prevent complications associated with high blood pressure and electrolyte disturbances.