Liddle's syndrome

A monogenic genetic disease associated with hypertension, hypokalemia and meatbolic alkalosis, that resembles primary hyperaldosteronism. A mutation in the gene that codes for proteins that are necessary for recirculation and degradation of the ENaC receptor on the luminal side in principal cells in the collecting duct leads to an increased amount of Na-channels and increased Na reabsorption (Link to principal cells in the collecting duct).

Hypertension is normally present as a child, but the condition can be detected later in life. Hypokalemia is a result of increased potassium secretion from the principal cells and alkalosis is the result of luminal electronegativity and increased exchange of H+ with K+ in the intercalated cells (Link to intercalated cells).

The treatment is sodium restriction and amiloride, which is a medication that blocks ENaC. Spironolactone will not have an effect as increase sodium reabsorption is independent of aldosterone.

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