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Liddle Syndrome

Liddle syndrome — also known as pseudoaldosteronism — is a rare genetic disorder that causes abnormal kidney function, which leads to high blood pressure. If left undiagnosed or untreated, high blood pressure can cause life-threatening complications such as heart disease, stroke, or kidney disease.

UPMC experts provide personalized, multidisciplinary care for people with Liddle syndrome. Their goal is to manage symptoms, optimize quality of life, and reduce the risk of life-threatening complications.

Looking for Liddle Syndrome Care?

Related services include:

  • Kidney disease. 

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On this page

  • What Is Liddle Syndrome?
  • What Are the Symptoms of Liddle Syndrome?
  • How Do You Diagnose Liddle Syndrome?
  • How Do You Treat Liddle Syndrome?

What Is Liddle Syndrome?

Liddle syndrome — also known as pseudoaldosteronism — is a rare genetic disorder that causes abnormal kidney function, which leads to hypertension (high blood pressure). If left undiagnosed or untreated, high blood pressure can cause life-threatening complications such as heart disease or stroke.

Is there a cure for Liddle syndrome?

There is no cure for Liddle syndrome. Most people can successfully manage Liddle syndrome with medication and ongoing medical care.

For people with Liddle syndrome who experience kidney failure, a kidney transplant may resolve Liddle syndrome symptoms.

What are the types of Liddle syndrome? 

There are three types of Liddle syndrome based on the gene mutation that is causing the condition:

  • Liddle syndrome type 1 — Caused by a mutation in the SCNN1B gene.
  • Liddle syndrome type 2 — Caused by a mutation in the SCNN1G gene.
  • Liddle syndrome type 3 — Caused by a mutation in the SCNN1A gene.

What causes Liddle syndrome?

Liddle syndrome is a genetic (inherited) condition caused by a mutation (change) in one of the genes that controls your kidneys’ ability to regulate blood pressure, potassium, sodium, and fluid levels in your body.

What are Liddle syndrome risk factors and complications?

Liddle syndrome risk factors

You are at risk for Liddle syndrome if you have a parent who has been diagnosed with Liddle syndrome or is a carrier of the mutated gene.

Complications of Liddle syndrome

If left undiagnosed or untreated, high blood pressure caused by Liddle syndrome can cause life-threatening complications, including:

  • Damage to the retina in your eyes.
  • Heart disease.
  • Kidney failure.
  • Stroke.

How can I prevent Liddle syndrome?

Liddle syndrome is a genetic condition. One copy of the mutated gene is enough to cause Liddle syndrome. If you have a family history of Liddle syndrome, genetic testing and counseling can help determine if you are a carrier of the gene.

How common is Liddle syndrome?

Liddle syndrome is a rare condition that has been identified in populations worldwide. However, health experts aren’t sure how many people are affected because many cases are undiagnosed or unconfirmed.

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What Are the Signs and Symptoms of Liddle Syndrome?

The main symptom of Liddle syndrome is severe high blood pressure that doesn’t respond well to routine treatment. High blood pressure usually starts during childhood or adolescence.

Other symptoms of Liddle syndrome include:

  • High pH levels (metabolic alkalosis).
  • Low levels of hormones called aldosterone and renin.
  • Low potassium levels (hypokalemia).

What is the Liddle syndrome triad?

The Liddle syndrome triad refers to the three most common symptoms of Liddle syndrome:

  • Hypertension — high blood pressure.
  • Hypokalemia — low potassium levels.
  • Metabolic alkalosis — high pH levels.

When should I see a doctor about my Liddle syndrome symptoms?

If you have symptoms of Liddle syndrome — especially if you have a parent or another relative who has been diagnosed with the condition — you should schedule an appointment with your doctor right away. Early diagnosis and treatment may reduce your risk of complications.

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How Do You Diagnose Liddle Syndrome?

Liddle syndrome may be diagnosed after blood pressure tests, blood tests, and genetic testing.

What to expect during your visit

During your visit, your doctor will:

  • Order blood tests.
  • Perform a physical exam.
  • Review your health history.
  • Review your medication history.

Tests to diagnose Liddle syndrome

Tests to diagnose Liddle syndrome include:

  • Blood pressure testing — Your doctor may suspect Liddle syndrome if you have high blood pressure at an early age and your blood pressure doesn’t respond well to typical treatments.
  • Blood tests — Your doctor may order blood tests to check your potassium, pH, and hormone levels.
  • Genetic testing — This test can identify people with the gene mutation that causes Liddle syndrome.

Liddle syndrome prognosis

With lifelong treatment and monitoring, most people with Liddle syndrome can live full and active lives.

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How Do You Treat Liddle Syndrome?

Treatment for Liddle syndrome aims to lower blood pressure and reduce the risk of complications.

Treatments may include:

Dietary changes

Your doctor may suggest limiting sodium (salt) in your diet and recommending that you work with a registered dietitian to ensure the right balance of nutrients.

Lifestyle changes

Your doctor may recommend that you get regular exercise, quit smoking, avoid alcohol, and maintain a healthy weight to decrease your blood pressure.

Medicine to treat Liddle syndrome

Medicines usually used to treat high blood pressure may not be effective in people with Liddle syndrome.

Medications for Liddle syndrome may include:

  • Potassium-sparing diuretics — These medications eliminate salt and fluid from the body without reducing potassium levels.
  • Other blood pressure medications—Potassium-sparing diuretics may be combined with other blood pressure medications, such as beta-blockers and vasodilators.

Kidney transplant for Liddle syndrome

With proper treatment, most people with Liddle syndrome do not develop kidney failure. However, if you have kidney failure resulting from Liddle syndrome, you may need a kidney transplant.

We partner with UPMC kidney transplant experts to provide care before, during, and after transplant.

How effective is a kidney transplant for Liddle syndrome? 

A kidney transplant is often the best treatment option for people with Liddle syndrome, which has caused kidney failure. Kidney transplant recipients typically experience excellent outcomes.

Why choose UPMC for Liddle syndrome care?

When you choose UPMC for Liddle syndrome care, you will receive:

  • Access to world-class expertise — Our world-renowned experts treat the full spectrum of diseases that affect the kidneys using the latest techniques for diagnosis and treatment.
  • Multidisciplinary care — A team of experts will work with you to develop a comprehensive treatment plan that addresses all aspects of your condition.
  • A full range of treatment options — We offer the latest therapies and participate in clinical trials to advance understanding of disorders that affect the kidneys.

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By UPMC Editorial Staff. Last reviewed on 2025-04-24.

  • Liddle Syndrome. National Organization for Rare Disorders (NORD).
  • Liddle Syndrome (Pseudohyperaldosteronism). StatPearls.
  • Liddle syndrome: Frequency. MedlinePlus.
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