Glucocorticoid-remediable aldosteronism is a type of familial hyperaldosteronism, in which the body makes too much of a hormone called ACTH. Overall, this causes too much production of aldosterone by the adrenal glands. Aldosterone usually helps to regulate the levels of water, sodium, and potassium in the body. For individuals with glucocorticoid-remediable aldosteronism, too much aldosterone leads to high levels of sodium, low levels of potassium, and increased reabsorption of water.
Glucocorticoid-remediable aldosteronism is a genetic condition caused by the fusion of two genes called CYP11B1 and CYP11B2. This condition is passed down from parent to child in an autosomal dominant manner. This means only one mutation from one parent is inherited in order to cause symptoms. A person with this condition has a 50/50 chance of passing the condition on to their children.
The main symptoms of glucocorticoid-remediable aldosteronism are high blood pressure (hypertension), being tired, headaches, muscle spasms, muscle weakness, urinating frequently, being thirsty, and experiencing tingling sensations. Individuals with this condition are at an increased risk for a type of stroke known as a hemorrhagic stroke, which is caused by the bursting of a blood vessel. Doctors can diagnose this condition by giving a physical exam and looking at family history of high blood pressure and stroke. Doctors may also perform blood tests and urine tests to measure levels of particular substances. Once a diagnosis is made, the condition can be treated by giving individuals steroids to help lower aldosterone levels and blood pressure and maintain normal potassium levels. With proper treatment, high blood pressure can usually be controlled for many years.
If you or a family member has been diagnosed with glucocorticoid-remediable aldosteronism, talk with your doctor about the most current treatment options.
Description Last Updated: Feb 25, 2018