Aldosterone-Producing Adenoma
An aldosterone-producing adenoma is a noncancerous tumor of the adrenal gland that triggers the overproduction of aldosterone, resulting in severe high blood pressure and elevated cardiovascular risks.
Overview
An aldosterone-producing adenoma is a noncancerous (benign) tumor that develops in an adrenal gland, which is a small hormone-producing gland located on top of each kidney. In most cases, individuals develop a single tumor in one of the adrenal glands.
The adrenal tumor produces too much of the hormone aldosterone, a condition known as primary hyperaldosteronism. Aldosterone helps regulate the body's fluid levels and blood pressure by controlling the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which increases the body's fluid levels and blood pressure. People with an aldosterone-producing adenoma may develop severe high blood pressure (hypertension) and have an increased risk of heart attack, stroke, or an irregular heartbeat.
Frequency
Aldosterone-producing adenomas cause up to 60 percent of cases of primary hyperaldosteronism. It is estimated that primary hyperaldosteronism accounts for 5 to 15 percent of cases of hypertension, which affects approximately 3 in 10 adults worldwide. However, the exact prevalence of aldosterone-producing adenomas is unknown.
Causes & Genetics
Aldosterone-producing adenomas are caused by mutations in one of several genes. The most commonly mutated genes include:
- KCNJ5: Accountable for an estimated 40 percent of these tumors.
- CACNA1D: Mutated in about 9 percent of cases.
- ATP1A1: Mutated in about 6 percent of cases.
- Other genes, such as ATP2B3 and CTNNB1, are mutated in a small percentage of cases.
Only about 60 percent of affected individuals have an identified mutation in one of these genes; additional unidentified genes are also thought to be involved in the condition.
How Gene Mutations Affect Aldosterone Production
The genes known to be involved in aldosterone-producing adenomas play roles in balancing the amounts of positively charged atoms (ions) of sodium (Na+), potassium (K+), and calcium (Ca2+) in cells. The proteins produced from these genes transport these ions across cell membranes, creating an electrical charge that affects biochemical processes. In adrenal gland cells, this flow of ions helps control the production of aldosterone.
Mutations in the KCNJ5, CACNA1D, or ATP1A1 genes lead to abnormal electrical charges across cell membranes. These abnormalities overactivate a biochemical process that increases adrenal cell growth and division (proliferation), promoting adenoma formation. This overactivation also increases aldosterone production, resulting in hyperaldosteronism and leading to hypertension.
Inheritance
Aldosterone-producing adenomas are generally not inherited. Instead, they arise from a mutation in the body's cells that occurs after conception. Specifically, the alteration occurs in the adrenal gland cells that give rise to the tumor. These are known as somatic mutations.
Other Names
- Aldosterone-secreting adenoma
- Aldosteronoma
- Conn adenoma
- Primary aldosteronism due to Conn adenoma