Understanding Bartter Syndrome: Causes, Symptoms, Diagnosis, and Treatment

Bartter syndrome is a group of rare genetic conditions that affect the kidneys. If you have Bartter syndrome, your body loses too much salt and calcium when you urinate. This can lead to an imbalance of important minerals like potassium and calcium in your blood, which can cause various health problems.

Types of Bartter Syndrome

There are two main forms of Bartter syndrome:

1. Antenatal Bartter Syndrome: This form starts before birth and can be very serious, even life-threatening. Babies with antenatal Bartter syndrome may not grow properly in the womb or may be born prematurely.

2. Classic Bartter Syndrome: This form usually begins in early childhood and is less severe than the antenatal form. However, it can still affect growth and cause developmental delays.

A subtype of Bartter syndrome called Gitelman syndrome typically occurs later, from age 6 through adulthood.

Symptoms of Bartter Syndrome

Symptoms can vary from person to person, but some common signs of Bartter syndrome include:

• Constipation

• Frequent urination

• Feeling generally unwell

• Muscle weakness and cramping

• Salt cravings

• Severe thirst

• Slower than normal growth and development

Newborns with antenatal Bartter syndrome may urinate very often and experience:

• High fevers

• Dehydration

• Vomiting and diarrhea

• Unusual facial features (triangle-shaped face, large forehead, large pointed ears)

• Lack of normal growth

• Deafness at birth

Causes of Bartter Syndrome

Bartter syndrome is caused by genetic mutations that affect how the kidneys work, particularly in regulating salt balance. At least five genes are linked to Bartter syndrome. Losing too much salt through urine (salt wasting) can disrupt the balance of other minerals like potassium and calcium, leading to serious health issues.

Diagnosing Bartter Syndrome

For children with symptoms of classic Bartter syndrome, doctors will perform a thorough exam and order blood and urine tests. The antenatal form can be diagnosed before birth by testing the amniotic fluid. Genetic testing may also be done to look for specific gene mutations.

Treating Bartter Syndrome

While there is no cure for Bartter syndrome, treatment focuses on maintaining a healthy balance of fluids and minerals in the body. Treatment options may include:

• Indomethacin (an anti-inflammatory drug that reduces urine production)

• Potassium-sparing diuretics (to help retain potassium)

• RAAS inhibitors (to prevent potassium loss)

• Calcium, potassium, or magnesium supplements

• A diet high in salt, water, and potassium

• Intravenous fluids (for infants with severe forms)

People with Bartter syndrome will need to take medications or supplements for life to manage their condition. A team of specialists, including pediatricians, kidney experts, and social workers, may be involved in providing comprehensive care.

For more information on Bartter syndrome, consult with your healthcare provider or visit reputable websites such as National Organization for Rare Disorders (NORD), MedlinePlus, or National Kidney Foundation.