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Liddle Syndrome — ESENeph MCQ

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HardTubular DisordersLiddle SyndromeESENeph

A 35-year-old man has Liddle syndrome confirmed genetically. He has hypertension and hypokalaemia. Renin and aldosterone are both suppressed. What is the most appropriate antihypertensive?

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Correct answer: E — Amiloride

Liddle syndrome is caused by gain-of-function mutations in ENaC (epithelial sodium channel) in the collecting duct, causing excessive sodium reabsorption. This leads to hypertension with hypokalaemia and suppressed renin and aldosterone. Spironolactone (MRA) is ineffective because the mineralocorticoid receptor is not involved. Amiloride (or Triamterene) directly blocks ENaC and is the treatment of choice combined with a low-sodium diet.

Reference: Warnock 2001 – Liddle Syndrome Review; ERA-EDTA Tubular Disorders