Hyperaldosteronism familial type 2

A genetic disorder affecting aldosterone production

Hyperaldosteronism familial type 2
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Synonyms
Pronounce	N/A
Specialty	N/A
Symptoms	Hypertension, hypokalemia
Complications	Cardiovascular disease
Onset
Duration
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, blood tests
Differential diagnosis	N/A
Prevention	N/A
Treatment	Medications, surgery
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Hyperaldosteronism familial type 2 is a rare genetic disorder characterized by the overproduction of aldosterone, a hormone that regulates sodium and potassium levels in the blood. This condition is a form of primary aldosteronism and is inherited in an autosomal dominant pattern.

Pathophysiology

Hyperaldosteronism familial type 2 results from mutations in genes that affect the adrenal glands' ability to regulate aldosterone production. Unlike hyperaldosteronism familial type 1, which is caused by mutations in the CYP11B1 gene, familial type 2 is associated with mutations in other genes, although the exact genetic cause is not fully understood.

The overproduction of aldosterone leads to increased reabsorption of sodium and water in the kidneys, resulting in hypertension (high blood pressure). It also causes increased excretion of potassium, leading to hypokalemia (low potassium levels), which can cause muscle weakness, fatigue, and other symptoms.

Clinical Presentation

Patients with hyperaldosteronism familial type 2 typically present with:

• Persistent hypertension
• Hypokalemia
• Muscle weakness
• Fatigue
• Headaches

Diagnosis

Diagnosis of hyperaldosteronism familial type 2 involves:

• Blood tests to measure aldosterone and renin levels
• Genetic testing to identify mutations associated with the condition
• Imaging studies, such as CT scan or MRI, to assess the adrenal glands

Treatment

Treatment options for hyperaldosteronism familial type 2 include:

• Mineralocorticoid receptor antagonists such as spironolactone or eplerenone to block the effects of aldosterone
• Surgical removal of the affected adrenal gland(s) in cases of unilateral adrenal hyperplasia or adenoma
• Lifestyle modifications, including dietary changes to reduce sodium intake

Prognosis

With appropriate treatment, individuals with hyperaldosteronism familial type 2 can manage their symptoms effectively and reduce the risk of complications such as cardiovascular disease.

Also see

• Primary aldosteronism
• Hyperaldosteronism familial type 1
• Hypertension
• Hypokalemia