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Liddle syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Liddle syndrome

Liddle syndrome is an inherited disorder characterized by severe, early-onset high blood pressure and low levels of potassium in the blood.

Overview

Liddle syndrome is an inherited form of hypertension (high blood pressure). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.

In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include:

  • Muscle weakness or pain
  • Fatigue
  • Constipation
  • Heart palpitations

The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.

Frequency

Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide.

Causes

Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. Each of these genes provides instructions for making a subunit of a protein complex called the epithelial sodium channel (ENaC). These channels are found at the surface of epithelial cells in many tissues, including the kidneys, where they transport sodium into cells.

In the kidney, ENaC channels open in response to signals that sodium levels in the blood are too low, allowing sodium to flow into cells. From the kidney cells, this sodium is returned to the bloodstream (reabsorption) rather than being removed from the body in urine.

Mechanism of Disease

Mutations in the SCNN1B or SCNN1G gene change the structure of the ENaC subunit, altering a region involved in signaling for its breakdown (degradation) when it is no longer needed. As a result, the subunit proteins are not degraded, and more ENaC channels remain at the cell surface. This increase abnormally boosts the reabsorption of sodium (followed by water), leading to hypertension. Because reabsorption of sodium is linked with the removal of potassium, this process also leads to hypokalemia.

Associated Genes

  • SCNN1B
  • SCNN1G

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Other Names

  • Pseudoaldosteronism
  • Pseudoprimary hyperaldosteronism

Frequently Asked Questions

Liddle syndrome is driven by overactive epithelial sodium channels (ENaC) that reabsorb sodium independently of the renin‑angiotensin system. ACE inhibitors and ARBs target that system, so they have little effect. Potassium‑sparing diuretics like amiloride or triamterene directly block ENaC and are the first‑line agents for this condition.
definitive diagnosis combines clinical findings (early‑onset hypertension, hypokalemia, metabolic alkalosis) with laboratory data: a low plasma renin activity and low aldosterone level despite high blood pressure, and a serum potassium level below 3.5 mmol/L. Genetic confirmation is obtained by sequencing the SCNN1B or SCNN1G genes for pathogenic variants; this is usually done on a blood sample and does not require fasting or special preparation.
Limit sodium to <1.5 g/day, avoid processed foods, use fresh fruits and vegetables high in potassium (bananas, oranges, leafy greens), stay hydrated, monitor blood pressure at home, engage in regular aerobic exercise (30 minutes most days), and avoid excessive alcohol and caffeine, which can worsen potassium loss.
Untreated hypertension can lead to left‑ventricular hypertrophy, heart failure, stroke, and kidney damage. Regular follow‑up includes blood pressure checks every 3–6 months, serum potassium and renin/aldosterone levels every 6–12 months, and annual cardiac imaging (echocardiogram) to monitor for structural changes.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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