Familial hyperaldosteronism type 3

Familial hyperaldosteronism type 3
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hypertension, hypokalemia, muscle weakness
Complications	N/A
Onset	Childhood or early adulthood
Duration	N/A
Types	N/A
Causes	Genetic mutation in the KCNJ5 gene
Risks	N/A
Diagnosis	Genetic testing, blood tests
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgery, medication
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Familial hyperaldosteronism type 3 (FH-3) is a rare genetic disorder characterized by excessive production of the hormone aldosterone, leading to hypertension (high blood pressure) and hypokalemia (low potassium levels). This condition is part of a group of disorders known as familial hyperaldosteronism, which are inherited forms of primary aldosteronism.

Pathophysiology

Familial hyperaldosteronism type 3 is caused by mutations in the KCNJ5 gene, which encodes a potassium channel involved in the regulation of aldosterone production in the adrenal glands. Mutations in this gene lead to increased sodium reabsorption and potassium excretion, resulting in hypertension and hypokalemia.

Clinical Presentation

Patients with FH-3 typically present with symptoms of hypertension, which may be severe and resistant to standard treatments. Hypokalemia can lead to muscle weakness, fatigue, and in severe cases, cardiac arrhythmias. The onset of symptoms can occur in childhood or early adulthood.

Diagnosis

The diagnosis of familial hyperaldosteronism type 3 involves a combination of clinical evaluation, blood tests, and genetic testing. Blood tests may reveal elevated aldosterone levels and low plasma renin activity. Genetic testing can confirm the presence of mutations in the KCNJ5 gene.

Treatment

Treatment options for FH-3 include surgical and medical approaches. Surgical removal of the affected adrenal gland (adrenalectomy) can be curative in some cases. Medical management may involve the use of mineralocorticoid receptor antagonists, such as spironolactone or eplerenone, to control blood pressure and correct hypokalemia.

Prognosis

With appropriate treatment, individuals with familial hyperaldosteronism type 3 can achieve good control of blood pressure and potassium levels. Early diagnosis and management are crucial to prevent complications associated with prolonged hypertension.

Genetics

Familial hyperaldosteronism type 3 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. Genetic counseling is recommended for affected families to understand the inheritance pattern and risks to future generations.

Also see

• Familial hyperaldosteronism type 1
• Familial hyperaldosteronism type 2
• Primary aldosteronism
• Hypertension
• Hypokalemia