Liddle's syndrome

Liddle's syndrome is caused by a mutation in the sodium channel (ENaC) in the distal nephron. The mutation keeps the channel open, which has a similar effect to a raised aldosterone level. However, the aldosterone levels are not raised and may be lowered as a result of feedback from the sodium and water retention. There is increased sodium reabsorption and potassium loss. The condition is sometimes called pseudohyperaldosteronism.

The hypertension is caused by sodium retention. In the distal nephron sodium reabsorption is mechanistically linked to potassium secretion, so increased sodium retention will lead to increased potassium secretion and hypokalaemia.