BARTTER'S SYNDROME

BARTTER’S SYNDROME

Bartter’s syndrome was first described in medical literature by Dr. Frederic Bartter in the early 1960s. This refers to a set of unique hereditary disorders characterized by particular problems in kidney function. 

These problems limit the kidney’s function to reabsorb salt, resulting in electrolyte and fluid imbalances throughout the body. Mineral salts including calcium, potassium, magnesium, chloride, and sodium are among the affected electrolytes. Bartter syndrome’s symptoms and severity vary for each individual, ranging from mild to severe.

Types & Symptoms

TYPES

There are several types of Barrter’s syndrome. These include:

  • (SLC12A1 gene) Bartter syndrome type 1
  • (KCNJ1 gene) Bartter syndrome type 2
  • (CLCNKB gene) Bartter syndrome type 3
  • (BSND gene) Bartter syndrome type 4A
  • (CLCNKA and CLCNKB genes) Bartter syndrome type 4B
  • (MAGED2 gene) Bartter syndrome type 5

SYMPTOMS

The severity and symptoms for Bartter’s syndrome may vary from person to person and can range from moderate to severe. Also, observable symptoms could appear at any age, even before birth through adulthood. 

Furthermore, its symptoms may include:

  • Slow growth or development
  • Frequent thirst and urination
  • Unusual cravings for salty foods
  • Constipation
  • Weakness and cramping of the muscles
  • Constantly feeling unwell

DIAGNOSIS

The diagnosis of Bartter syndrome relies on the symptoms, clinical evaluation, detailed patient history, and various specialized tests. Even though molecular genetic testing can produce a diagnosis, it is only available at specialized labs and is not accessible to some regions.

TREATMENT

Treatment for Bartter syndrome depends on the patients’ specific symptoms. This will also determine which team of specialists, general internists, pediatricians, nephrologists, and other healthcare providers will plan and execute a particular treatment. 

There is no specific cure for this disease. However, Bartter’s syndrome becomes more manageable and controllable as patients become older. Nevertheless, lifelong medications and supplements are considered the treatment to reduce further complications. Also, the treatment mainly focuses on correcting the salt imbalances using diuretics and NSAIDs or nonsteroidal anti-inflammatories.

Indomethacin has already been beneficial in patients with Bartter syndromes, but it can have serious adverse effects, particularly in premature babies, particularly in the gastrointestinal tract. It’s best to take it with a stomach acid blocker. Newer NSAIDs, such as celecoxib (also known as “COX2 inhibitors”), have a decreased risk of these intestinal effects and have been proven to help with Bartter syndrome. However, there is less evidence regarding their administration.

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