The disease can be diagnosed with blood tests andurinalysisand confirmed with a genetic test.
Treatment is directed at managing the symptoms of the disease on a case-by-case basis.
There is no cure for Bartter syndrome.
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Bartter syndrome is named after Dr. Frederic Bartter who first described the genetic disorder in 1962.
What Are the Symptoms of Bartter Syndrome?
Additional mutations may result in subtypes with a different range of symptoms or disease severity.
It occurs more often in children born to parents who areconsanguineous(closely related).
The condition seems to be more common in Costa Rica and Kuwait than in any other population.
Despite the impact that Bartter syndrome can have on the kidneys,renal failureis rare.
There also are elevated levels of chloride and aldosterone in amniotic fluid.
Molecular genetic testingcan confirm a diagnosis.
How this is done largely depends on the severity of symptoms.
Some children require minimal management or their fluid/electrolyte balance may become normal spontaneously without treatment.
Medications
Sodium, potassium chloride, and magnesium supplements are often used to correct electrolyte imbalances.
Infants with severe, life-threatening symptoms may require intravenous (IV) salt and water replacement.
As a child with Bartter syndrome gets older, the condition generally becomes easier to manage.
Bartter Syndrome Prognosis
The outlook for people with Bartter syndrome is generally favorable.
With management, most people will go on to live normal lives.
Even when symptoms are severe, there are treatments available to help restore hearing and correct severe kidney dysfunction.
The outlook for people with Bartter syndrome has improved considerably in recent years.
2023 May 31;10:1225353].Front Med (Lausanne).
2022;16(3):162-170.
