Aldosterone synthase deficiency

Aldosterone synthase deficiency is a rare genetic disorder that affects the body's ability to regulate sodium and potassium levels. This condition is caused by mutations in the CYP11B2 gene, which provides instructions for making an enzyme called aldosterone synthase. This enzyme is responsible for the final step in the production of the hormone aldosterone, which regulates sodium and potassium levels in the body.

Causes

Aldosterone synthase deficiency is caused by mutations in the CYP11B2 gene. This gene provides instructions for making an enzyme called aldosterone synthase. Aldosterone synthase is found in the adrenal glands, which are small hormone-producing glands located on top of each kidney. The enzyme is involved in the final step of producing the hormone aldosterone.

Symptoms

The symptoms of aldosterone synthase deficiency can vary, but they often include salt-wasting, low blood pressure (hypotension), and high levels of potassium in the blood (hyperkalemia). Some individuals with this condition may also have a build-up of acids in the blood (metabolic acidosis) and may fail to thrive.

Diagnosis

Diagnosis of aldosterone synthase deficiency is based on the symptoms, laboratory tests showing low levels of aldosterone and high levels of potassium in the blood, and genetic testing confirming a mutation in the CYP11B2 gene.

Treatment

Treatment for aldosterone synthase deficiency typically involves taking medications to replace the missing aldosterone and to help regulate sodium and potassium levels in the body. In some cases, dietary modifications may also be recommended.

See also

• Congenital adrenal hyperplasia
• Adrenal gland
• Hypotension
• Hyperkalemia