Bartter syndrome

Other Names: 

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria; Salt-losing tubular disorder, Henle's loop type; Salt-wasting tubulopathy, Henle's loop type

Summary

Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy,babies with Bartter syndrome often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). One form begins before birth (antenatal) and is often more severe. The other form, often called the classical form, begins in early childhood and tends to be less severe.

About Bartter syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:Fewer than 5,000 people in the U.S. have thisdisease.
• Symptoms:May start to appear at a variety of ages.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
• Categories:Genetic Diseases Kidney Diseases

Genetic Mutations

Bartter syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Bartter syndrome Begin?

Symptoms of this disease may start to appear at a variety of ages.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.

Symptoms

• Short Stature
  Synonym: Decreased Body Height
  Synonym: Height Less Than 3rd Percentile
  Synonym: Short Stature
  Synonym: Small Stature
  Synonym: Stature below 3rd Percentile