Liddle disease

Monogenic genetic disease associated with hypertension, hypokalemia, and metabolic alkalosis similar image by primary hyperaldosteronisme.mutasjon in the gene encoding the proteins necessary for recycling and degradation of ENaC receptor luminal the main cells in the manifold leading to increased number of Na channels and increased luminal Na reabsorption (Link to the main cells in the manifold).

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

Treatment is salt restriction and amiloride, which is a drug that blocks ENaC. Spironolactone has no effect when increased sodium reabsorption is independent of aldosterone.

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