Bartter Disease

Bartter Disease

Article
Kidney & Bladder Health
Kids' Zone
+3
Contributed byKrish Tangella MD, MBAJul 28, 2021

The topic Bartter Disease you are seeking is a synonym, or alternative name, or is closely related to the medical condition Bartter Syndrome.

Quick Summary:

  • Bartter Syndrome is a genetic disorder characterized by imbalances of ions, such as sodium, chloride, and potassium, within the body
  • The disorder is classified based on the time of onset into the following categories:
    • Antenatal Bartter Syndrome: It is recognisable before birth and can potentially be life-threatening
    • Classic Bartter Syndrome: It is not as severe and has an onset during early infancy
    • Gitelman Syndrome: This condition has an onset during adolescence or early adulthood, and it may not be as severe as the other forms of Bartter Syndrome
  • Bartter Syndrome is caused by mutations in the SLC12A1, KCNJ1, CLCNKB, CLCNKA, and BSND genes. Since this is a genetic condition, a family history of Bartter Syndrome is a major risk factor for developing the condition
  • The genes implicated in Bartter Syndrome are involved in the proper functioning of the kidneys through salt reabsorption. Mutations in these genes can cause a loss of salt in the urine
  • Some of the symptoms of Bartter Syndrome are increased urine volume, increased urine frequency, dehydration, constipation, reduced potassium levels, weak bones, and muscle spasms
  • The syndrome can lead to potential complications such as developmental delays, progressive kidney failure, and risk of arrhythmia with resultant sudden cardiac death
  • The treatment options for Bartter Syndrome include suitable lifestyle measures, such as eating foods rich in sodium and potassium and drinking plenty of water. Other measures include taking potassium supplements, medications to prevent potassium loss from kidneys, and if required, kidney transplantation in case of end-stage renal disease
  • Currently, there are no effective means of preventing Bartter Syndrome; however, genetic testing and counselling might help parents prepare for and understand the disorder better. Prompt and continued treatment may also help prevent complications due to Bartter Syndrome
  • Bartter Syndrome is currently not curable, but it is only manageable through appropriate medical support. In neonates, the condition can be very serious and life-threatening
  • The long-term prognosis for Bartter Syndrome is guarded in light of the possibility for progressive kidney disease and kidney failure. Without treatment, the mortality and morbidity rates are reported to be high

Please find comprehensive information on Bartter Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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