SNP Shot: Genomic Insights

Familial hyperaldosteronism refers to a set of inherited disorders where the adrenal glands, situated atop each kidney, overproduce aldosterone. Aldosterone regulates salt retention by the kidneys. When there's too much aldosterone, the kidneys retain excessive salt, leading to increased fluid volume and elevated blood pressure. Individuals with familial hyperaldosteronism can experience severe high blood pressure (hypertension), often starting at a young age. Untreated hypertension raises the risk of stroke, heart attack, and kidney failure.

Familial hyperaldosteronism is classified into three types, based on their symptoms and genetic origins. Type I typically manifests as hypertension in childhood or early adulthood, ranging from mild to severe. This type responds to glucocorticoids, a type of steroid medication, hence its alternative name: glucocorticoid-remediable aldosteronism (GRA). Type II usually presents with hypertension in early to middle adulthood and is not responsive to glucocorticoid treatment. In Type III, the adrenal glands are often significantly enlarged, sometimes up to six times their normal size. These individuals suffer from severe, treatment-resistant hypertension that begins in childhood, often leading to organ damage, particularly affecting the heart and kidneys. Rarely, individuals with Type III may experience milder symptoms, treatable hypertension, and no adrenal gland enlargement.

Other forms of hyperaldosteronism exist that are not inherited. These conditions arise from various issues within the adrenal glands or kidneys. In some cases, the cause of the increased aldosterone levels remains unidentified.

Inheritance:

This condition follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is needed to cause the disorder.