Bartter Syndrome

Bartter syndrome — also known as salt-wasting nephropathy — refers to a group of rare, inherited kidney disorders that are present at birth and cause imbalances in electrolyte (mineral) levels in your body. Bartter syndrome affects your kidneys’ ability to reabsorb sodium chloride (salt) and may cause problems with potassium, calcium, and magnesium levels.

UPMC experts provide advanced treatment for Bartter syndrome, helping you effectively manage your condition and reduce your risk of complications.

On this page

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

What Is Bartter Syndrome?

Bartter syndrome — also known as salt-wasting nephropathy — refers to a group of rare, inherited kidney disorders that are present at birth and cause imbalances in electrolyte (mineral) levels in your body. Bartter syndrome affects your kidneys’ ability to reabsorb sodium chloride (salt) and may cause problems with potassium, calcium, and magnesium levels.

What are the types of Bartter syndrome? 

There are five types of Bartter syndrome caused by different gene defects.

Types of Bartter syndrome include:

• Type I — Caused by a mutation in the SLC12A1 gene; symptoms appear before birth.
• Type II — Caused by a mutation in the KCNJ1 gene; symptoms appear before birth.
• Type III — Caused by a mutation in the CLCNKB gene and known as “classic” Bartter syndrome; symptoms in childhood or adolescence and may be less severe than other types.
• Type IV — Caused by a mutation in the BSND gene or a combination of mutations in the CLCNKA and CLCNKB genes; symptoms appear before birth and may be severe.
• Type V — Caused by a mutation in the MAGED2 gene; symptoms appear before birth and may be severe.

What causes Bartter syndrome?

Bartter syndrome is a genetic (inherited) condition caused by a mutation, or change, in the genes that control your kidney function. These gene mutations lead to problems with your kidneys’ ability to reabsorb salt, which causes you to lose too much salt in your urine (salt wasting). Salt wasting may also cause imbalances in your potassium, calcium, and magnesium levels.

What are Bartter syndrome risk factors and complications?

Bartter syndrome risk factors

If you have a biological family member with Bartter syndrome, you may be at risk. If both parents are carriers of a mutated gene that causes Bartter syndrome, there is a 25% chance that their children will develop the disorder.

Complications of Bartter syndrome

Symptoms of Bartter syndrome can be managed with treatment.

If left untreated, Bartter syndrome may cause serious complications, including:

• Abnormal heart rhythms (arrhythmias).
• Electrolyte imbalances.
• Kidney failure.
• Muscle paralysis.
• Problems with growth or development.
• Seizures.

How can I prevent Bartter syndrome? 

Bartter syndrome is a genetic condition. If you have a family history of Bartter syndrome, genetic testing and counseling can help you find out if you are a carrier of the gene.

How common is Bartter syndrome?

Bartter syndrome is a rare condition that is often undiagnosed or misdiagnosed, so the exact number of cases is unknown. However, estimates range from one in 100,000 to one in one million people in the U.S. who may be affected by Bartter syndrome.

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What Are the Signs and Symptoms of Bartter Syndrome?

Symptoms of Bartter syndrome may show up before birth or in early childhood, depending on your type. Symptoms before birth may include increased volume of amniotic fluid in the womb.

Symptoms in early childhood may include:

• Constipation.
• Dehydration.
• Frequent urination.
• Low blood pressure.
• Muscle cramps.
• Muscle weakness.
• Kidney stones.
• Poor growth (failure to thrive).

What are the facial features of Bartter syndrome?

Children with Bartter syndrome may have distinct facial features, including:

• Large ears.
• Large eyes.
• Large head.
• Prominent forehead.
• Triangular face.

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

If you or your child has symptoms of Bartter syndrome, you should schedule an appointment with your doctor as soon as possible. Early diagnosis and treatment can reduce your risk of complications.

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How Do You Diagnose Bartter Syndrome?

Bartter syndrome is diagnosed with a blood test. Genetic testing may be performed to confirm the diagnosis.

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 Bartter syndrome

Before birth, Bartter syndrome can be diagnosed with:

• Fetal ultrasound — This test uses sound waves to create pictures of your baby. During the test, your doctor will measure the amount of fluid surrounding your baby (amniotic fluid). Your doctor may suspect Bartter syndrome if you have more amniotic fluid than normal.
• Chorionic villus sampling (CVS) — During CVS, your doctor will take a sample of the amniotic fluid (fluid surrounding your baby) to send for genetic testing in a lab. CVS can confirm a Bartter syndrome diagnosis.

Several tests can be used to diagnose Bartter syndrome after birth, including:

• Blood tests — Blood tests check for abnormal electrolyte and hormone levels in your blood.
• Genetic testing — This test can identify people with a gene mutation linked to Bartter syndrome and help make a diagnosis.
• Ultrasound — Uses sound waves to create images of your organs to check for problems.
• Urinalysis — Looks for abnormalities in your urine, such as high levels of potassium, calcium, and sodium chloride.
• Urine output — Tracks how much urine your body produces each day.

Bartter syndrome prognosis

With ongoing treatment and management, most people with Bartter syndrome live normal lives. A few people with severe, untreated symptoms may develop kidney problems over time, including kidney failure.

What is the life expectancy of someone with Bartter syndrome?

Most people with well-controlled Bartter syndrome have a normal life expectancy.

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How Do You Treat Bartter Syndrome?

The goal of Bartter syndrome treatment is to manage symptoms and promote normal growth while reducing the risk of long-term complications.

Treatment may include:

Dietary changes

Eating a potassium-rich diet may help people with Bartter syndrome maintain a healthy electrolyte balance. However, diet alone may not be enough to restore normal electrolyte levels.

Your doctor may suggest you work with a registered dietitian to ensure your diet includes the right balance of nutrients.

Medicine to treat Bartter syndrome

Medications to treat Bartter syndrome may include:

• Blood pressure medications.
• Mineral supplements, such as potassium, salt, and magnesium.
• Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen.
• Potassium-sparing diuretics to reduce the risk of kidney damage.

Why choose UPMC for Bartter syndrome care?

When you choose UPMC for Bartter 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.