Schwartz Bartter Syndrome, also known as Bartter syndrome type 2, is a rare genetic disorder characterized by impairments in the kidneys' ability to reabsorb certain electrolytes. This syndrome belongs to a group of disorders called Bartter syndromes, named after the pediatrician Frederic Bartter, who first described them.
Individuals with Schwartz Bartter Syndrome experience a range of symptoms, most commonly including high levels of calcium and low levels of potassium in the urine, excessive thirst, frequent urination, and constant electrolyte imbalances. These imbalances can lead to complications such as muscle weakness, fatigue, kidney stones, growth retardation, and in severe cases, kidney failure.
The syndrome is caused by mutations in the CLCNKB gene, which provides instructions for producing a protein involved in the reabsorption of chloride ions in the kidneys. These mutations disrupt the normal functioning of the protein, altering the electrolyte balance in the body.
Treatment for Schwartz Bartter Syndrome aims at managing the symptoms and preventing complications. Therapies may involve maintaining adequate hydration, regulating electrolyte levels through medications, such as diuretics and potassium supplements, and monitoring kidney function regularly.
Due to its genetic nature, Schwartz Bartter Syndrome is typically present from birth, although symptoms may not become apparent until later in infancy or childhood. Genetic counseling is often advised for affected individuals and their families to understand the inheritance pattern and potential risks of passing the disorder to future generations.
