What is Bartter syndrome?
Bartter syndrome is a rare genetic condition that affects the kidneys, which remove waste and water from the blood to make urine (pee). It causes a child’s body to lose too many minerals — especially salt — in the urine.
There are several different kinds of Bartter syndrome. They are classified by which gene is causing the condition, the severity of the condition and the age of the child when symptoms start.
Bartter syndrome typically causes excessive urination and growth failure. It can also lead to other health problems caused by the imbalance of minerals. Some types cause calcium deposits in the kidneys that can lead to kidney stones.
What causes Bartter syndrome in children?
Genetic mutations are the cause of all types of Bartter syndrome. These mutations affect the kidneys' ability to control the balance of minerals in urine.
The two main types of Bartter syndrome are antenatal and classic. With antenatal varieties, signs of the condition are present before birth. Classic varieties present at different ages during childhood.
Who gets Bartter syndrome?
Anyone can have a gene mutation that causes Bartter syndrome, but the condition is rare. Sometimes doctors detect it at birth or even before birth, during prenatal care. In other cases, it goes undetected until later in childhood.
What are the signs and symptoms of Bartter syndrome?
The typical signs of Bartter syndrome in children include excessive urination, causing chronic dehydration and growth failure. Additional, non-specific symptoms can include:
- Salt cravings
- Severe thirst
- Constipation (infrequent or trouble pooping) caused by dehydration
What tests does Children's Hospital Colorado use to diagnose Bartter syndrome in children?
Following a physical exam and medical history, tests may include:
- Bloodwork to look at your child's mineral concentrations and acid-base balance
- Urine testing to check how much calcium is in the urine
How do we make a diagnosis for Bartter syndrome in children?
At Children's Colorado, we diagnose Bartter syndrome by considering your child's symptoms, as well as their blood and urine test results.
Sometimes we discover Bartter syndrome when children are not tracking on their growth chart, and when we do bloodwork. This can reveal electrolyte and acid-base abnormalities that are characteristic of Bartter syndrome.
How is Bartter syndrome treated in children?
We can't cure Bartter syndrome because it's genetic, but we can manage it. At Children's Colorado, we use electrolyte and mineral supplementation to replace those being lost. Sometimes, we also provide non-steroidal anti-inflammatory drugs. These can slightly decrease your child's kidney function, but they will also prevent them from losing so many minerals in their urine. We monitor this therapy with laboratory testing to ensure it is safe and effective.
We may also use ultrasound imaging to look for calcium deposits in your child's kidneys. It is very unusual for Bartter syndrome to cause severe kidney failure, but in those rare cases, we treat the kidney failure as needed. This treatment can include dialysis, a procedure that uses a machine to filter your child's blood. Even more rarely, kidney failure treatment can include kidney transplant. A kidney transplant is a procedure to replace unhealthy kidneys with a healthy kidney donated by another person.
Why choose Children's Colorado for Bartter syndrome treatment?
Our pediatric kidney care team has vast experience in caring for children with kidney disorders. We are a multidisciplinary group of doctors, nurses, dietitians, pharmacists and other pediatric professionals providing child-centered care. This multidisciplinary approach enables us to meet the diverse medical needs that children with Bartter syndrome may have.
We also work closely with our Colorado Fetal Care Center, where we may detect Bartter syndrome before birth.
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