Hypertensive hyperkalemia, familial

Hypertensive hyperkalemia, familial (FHHt), also known as Pseudohypoaldosteronism type II (PHAII) or Gordon's syndrome, is a rare genetic disorder characterized by hypertension (high blood pressure), hyperkalemia (elevated levels of potassium in the blood), and metabolic acidosis. This condition is distinguished from other forms of hypertension and hyperkalemia by its unique inheritance pattern and its responsiveness to specific treatments.

Causes

Familial Hypertensive Hyperkalemia is caused by mutations in several genes, including WNK1, WNK4, CUL3, and KLHL3, which play crucial roles in regulating sodium and potassium balance in the kidney. These mutations lead to an abnormal increase in sodium reabsorption and decreased potassium excretion, resulting in hypertension and hyperkalemia.

Symptoms

The primary symptoms of FHHt include:

• Hypertension: Elevated blood pressure often resistant to conventional antihypertensive treatments.
• Hyperkalemia: Increased potassium levels in the blood, which can cause muscle weakness, fatigue, and potentially life-threatening cardiac arrhythmias.
• Metabolic Acidosis: A condition where there is too much acid in the body fluids.

Diagnosis

Diagnosis of FHHt involves a combination of clinical evaluation and laboratory tests. Key diagnostic tests include:

• Blood tests to measure potassium, sodium, and aldosterone levels.
• Genetic testing to identify mutations in the WNK1, WNK4, CUL3, or KLHL3 genes.

Treatment

Treatment of FHHt focuses on managing hypertension and hyperkalemia. Common treatments include:

• Thiazide diuretics: These are effective in reducing hypertension and hyperkalemia in FHHt patients.
• Dietary modifications: Reducing intake of potassium and salt.
• Potassium-binding agents: In cases of severe hyperkalemia, these agents may be used to lower potassium levels in the blood.

Prognosis

With appropriate treatment, individuals with FHHt can manage their symptoms and lead relatively normal lives. However, untreated, the condition can lead to complications such as kidney damage and cardiovascular disease.

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