Definition

What is Bartter Syndrome?

Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios).

How common is Bartter Syndrome?

Bartter Syndrome is not common. It affects males and females in equal numbers. They are estimated to affect approximately one in 1,000,000 people in the general population. However, many cases go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. Bartter syndrome can occur in individuals of any race or ethnic background. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Bartter Syndrome?

The common symptoms of Bartter Syndrome are:

  • Constipation
  • Frequent urination
  • Generally feeling unwell
  • Muscle weakness and cramping
  • Salt cravings
  • Severe thirst
  • Slower than normal growth and development

Antenatal Bartter syndrome may be diagnosed before birth. It can be found if there are signs the baby’s kidneys aren’t working right or there’s too much fluid in the womb.

Newborns with this form of the syndrome may pee very often and can have:

  • Dangerously high fevers
  • Dehydration
  • Vomiting and diarrhea
  • Unusual facial features such as triangle-shaped face, large forehead, large pointed ears
  • Lack of normal growth
  • Deafness at birth

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Bartter Syndrome?

There are five gene defects known to be associated with Bartter syndrome. The condition is present at birth (congenital).

The condition is caused by a defect in the kidneys’ ability to reabsorb sodium. People affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone, and makes the kidneys remove too much potassium from the body. This is known as potassium wasting.

The condition also results in an abnormal acid balance in the blood called hypokalemic alkalosis, which causes too much calcium in the urine.

Risk factors

What increases my risk for Bartter Syndrome?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Bartter Syndrome diagnosed?

Bartter syndrome is usually suspected when a blood test finds a low level of potassium in the blood. Unlike other forms of kidney disease, this condition does not cause high blood pressure. There is a tendency toward low blood pressure. Laboratory tests may show:

  • High levels of potassium, calcium, and chloride in the urine
  • High levels of the hormones renin and aldosterone in the blood
  • Low blood chloride
  • Metabolic alkalosis

These same signs and symptoms can also occur in people who take too many diuretics (water pills) or laxatives. Urine tests can be done to rule out other causes.

An ultrasound of the kidneys may be done.

How is Bartter Syndrome treated?

Treatment of Bartter syndrome depends on the specific symptoms present in each individual and may require the coordinated efforts of a team of specialists. The primary focus of treatment is on restoring the proper balance of fluids and electrolytes in the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassium-sparing diuretics. In high-stress situations such as illness or trauma, blood electrolyte levels can change rapidly, which may require immediate intravenous treatment. Genetic counseling may benefit affected individuals and their families.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Bartter Syndrome?

The following lifestyles and home remedies might help you cope with Bartter Syndrome:

Adequate salt and water intake is necessary. Affected individuals have a large appetite for salt due to salt cravings. Affected individuals may be encouraged to eat foods that are high in potassium.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: August 17, 2018 | Last Modified: August 17, 2018

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