Bartter syndrome is a group of similar rare conditions that affect the kidneys. It's genetic, meaning it's caused by a problem with a gene.
If you have this condition, too much salt and calcium leave your body when you pee. It also may cause low levels of potassium and high levels of acid in the blood. If these are out of balance, you can have many different health problems.
There are two major forms of Bartter syndrome. Antenatal Bartter syndrome starts before birth. It can be very serious, even life-threatening. Babies may not grow as they should in the womb, or they may be born too early.
The other form is called classic. It usually starts in early childhood and isn't as severe as the antenatal form. But it can affect growth and cause developmental delays.
Gitelman syndrome is a subtype of Bartter syndrome. It tends to happen later, usually from age 6 through adulthood.
Bartter Syndrome Symptoms
Symptoms can be different for everyone, even for people with the same condition. Some common ones include:
- 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 a triangle-shaped face, a large forehead, and large pointed ears
- Lack of normal growth
- Deafness at birth
Causes and Risk Factors of Bartter Syndrome
Genes carry instructions that help your body work right. Genetic diseases can happen when there's a change in the gene (called a mutation).
At least five genes are linked to Bartter syndrome, and they all play an important role in how your kidneys work, especially your ability to take in salt. Losing too much salt through pee (salt wasting) can affect how your kidneys take in other substances, including potassium and calcium.
A lack of balance in these elements can lead to serious problems:
- Too little salt can cause dehydration, constipation, and frequent peeing.
- Too little calcium can weaken bones and cause frequent kidney stones.
- Low blood levels of potassium can cause muscle weakness, cramping, and fatigue.
Types of Bartter Syndrome
In addition to the two major forms of Bartter syndrome -- antenatal and classic -- the condition is further categorized by five types, which are each identified by the specific genes involved.
Types I, II, and IV are usually considered antenatal Bartter syndrome. Because type IV can include hearing loss, it is often called antenatal Bartter syndrome with sensorineural deafness.
Types III and V typically occur later in childhood and cause milder symptoms, so they are considered to be classic Bartter syndrome. Type III may resemble Gitelman syndrome in some patients.
How Is Bartter Syndrome Diagnosed?
For children with symptoms of classic Bartter syndrome, a doctor will do a thorough exam along with blood and urine tests. The antenatal form can be diagnosed before birth by testing the amniotic fluid in the womb.
Genetic testing may also be done. Your child's doctor will collect blood and possibly small samples of tissue so a specialist can look for mutations.
Bartter Syndrome Treatment
Once your child is diagnosed, their care may involve a team of specialists, including pediatricians, kidney experts, and social workers. To ensure they keep a healthy balance of fluids and other important things, one or several of these may be recommended:
- Indomethacin, an anti-inflammatory drug that helps their body make less urine
- Potassium-sparing diuretics, which help them retain potassium
- Renin-angiotensin-aldosterone system (RAAS) inhibitors, which help keep them from losing potassium
- Calcium, potassium, or magnesium supplements or a combination of them
- Food high in salt, water, and potassium
- Fluids put directly into a vein (for infants with severe forms)
Because there's no cure, people who have Bartter syndrome will need to take certain medications or supplements for life.
Takeaways
Bartter syndrome is a rare genetic condition that affects the kidneys, causing the body to lose too much salt and calcium through urine. There are two main forms — antenatal Bartter syndrome (which occurs before birth and can be serious) and classic Bartter syndrome (which usually starts in childhood and is less severe but can still affect growth and development). Symptoms vary but may include frequent urination, muscle weakness, and severe thirst. While there's no cure, treatment focuses on managing symptoms and maintaining a balance of fluids and electrolytes with medications and diet.
Bartter Syndrome FAQs
What is the life expectancy of someone with Bartter syndrome?
Bartter syndrome can be life-threatening if it's not diagnosed and treated promptly. With proper treatment, you can live normally. However, it may cause complications such as growth issues and kidney issues.
What are the criteria for Bartter syndrome?
Characteristics of Bartter syndrome include frequent urination, dehydration, growth issues, and failure to thrive. High levels of calcium in the kidneys are also common in some forms.
What are the facial features of Bartter syndrome?
People with Bartter syndrome may have larger foreheads, wide-set eyes, and sticking-out ears. Drooping mouth and sensorineural deafness are also common in some people.
Does Bartter syndrome go away?
There is no cure for this genetic condition, but it is treatable.
How do you test for Bartter syndrome?
In addition to a physical exam, doctors will test blood and urine for electrolytes as well as genetic testing.