Pseudohyperaldosteronism, also known as apparent mineralocorticoid excess (AME), is a rare genetic disorder characterized by a condition that mimics the effects of excessive aldosterone hormone in the body. This condition leads to increased sodium reabsorption and potassium excretion, resulting in high blood pressure and low potassium levels.
Synonyms for pseudohyperaldosteronism include:
Pseudohyperaldosteronism is caused by mutations in the genes responsible for regulating the activity of the mineralocorticoid receptor, which is normally activated by aldosterone. However, in individuals with pseudohyperaldosteronism, the receptor remains constantly activated, leading to excessive sodium reabsorption and potassium excretion.
Common symptoms of pseudohyperaldosteronism include:
Diagnosis of pseudohyperaldosteronism involves genetic testing to identify mutations in the mineralocorticoid receptor genes. Treatment options for this condition aim to manage blood pressure and potassium levels. Medications such as potassium-sparing diuretics and aldosterone receptor antagonists may be prescribed to counteract the effects of excessive sodium reabsorption.
In conclusion, pseudohyperaldosteronism, also known as apparent mineralocorticoid excess (AME), is a rare genetic disorder characterized by excessive sodium reabsorption and low potassium levels. Synonyms for this condition include Liddle syndrome, hereditary hypertension, and mineralocorticoid receptor dysfunction. Diagnosis involves genetic testing, and treatment focuses on managing blood pressure and potassium levels.