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Bartter syndrome is a rare genetic condition that affects the kidneys. It is a problem you are born with. In this condition, the kidneys are not able to properly reabsorb salt. This causes the body to lose too much potassium, sodium, and chloride in the urine. This loss leads to a serious imbalance of these salts in your blood.
read more about bartter syndrome ...Bartter syndrome is caused by a flaw in one of the genes that tells the kidneys how to work. It is an inherited disease, which means it is passed down from parents. A child must inherit a faulty gene from both parents to have the condition. The faulty gene stops a specific part of the kidney from being able to hold on to salt.
Symptoms can start before birth or in early childhood. The main problem is a very low level of potassium in the blood. This can cause muscle weakness, cramps, and feeling very thirsty. Babies with this condition may fail to grow well. Other signs include urinating a lot, a craving for salt, and becoming dehydrated easily.
Doctors will run tests on the blood and urine. These tests will show low levels of potassium and chloride in the blood, but very high levels of these salts in the urine. They will also check for high levels of certain hormones that try to control the body's salt balance. A genetic test can confirm the diagnosis and find the exact faulty gene.
There is no cure for the genetic cause, so treatment is lifelong. The goal is to manage the salt imbalance. The main treatment is taking high-dose potassium supplements every day to replace what is lost. Patients may also need other medicines that help the body hold on to potassium. It is also very important to drink a lot of fluids to prevent dehydration.
Is Bartter syndrome serious?
Yes, it is a serious, lifelong medical condition. If it is not treated, the salt imbalance can be very dangerous. With proper treatment, people can manage the condition well.
Can Bartter syndrome be cured?
No. The underlying genetic problem cannot be cured. The treatment, which is taking supplements and medicine, must be continued for the person's entire life.
What is the difference between Bartter and Gitelman syndrome?
They are very similar kidney salt-losing conditions. The main difference is that Bartter syndrome usually starts much earlier, in babies or young children, and can be more severe. Gitelman syndrome often starts later in childhood or in adults.
You should see a doctor if your baby or child is not growing well, is always thirsty, or has muscle cramps or weakness. This condition is usually found in childhood. If you are diagnosed, you will need to see a kidney specialist, called a nephrologist, for regular checkups to manage your health.