What is Liddle syndrome?

Updated: Dec 06, 2018
  • Author: Eleanor Lederer, MD, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Liddle syndrome is an autosomal dominant disorder characterized by a mutation affecting either the beta or gamma subunit of the epithelial sodium channel in the aldosterone-sensitive portion of the nephron. These subunits are encoded by the SCNN1G and SCNN1B genes and are inherited in an autosomal dominant fashion.

Mutations to these genes lead to unregulated sodium reabsorption, hypokalemic metabolic alkalosis, and severe hypertension. It has been shown that amiloride and triamterene are effective treatments for Liddle syndrome, but spironolactone is not. [31]


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