How to Treat Bartter Syndrome?

What is Bartter Syndrome?

Bartter Syndrome, named after the American pediatrician Frederic Bartter, is a rare genetic disorder that affects the kidneys, resulting in an imbalance of salts within the body. Described in 1962, this syndrome predominantly affects the renal tubules, causing disruptions in electrolyte levels, dehydration, and kidney abnormalities. This collection of uncommon kidney conditions originates from specific genetic issues, manifesting in excessive excretion of salt and calcium in urine. Consequently, individuals with this syndrome may experience imbalances, including low potassium levels and elevated blood acid levels, leading to a range of health issues when these factors are disrupted.

Why Does Bartter Syndrome Occur?

Bartter Syndrome is caused by genetic mutations that affect the functioning of ion channels in the kidneys. These mutations disrupt the normal reabsorption of salts, including potassium, sodium, chloride, and calcium, leading to their excessive loss through urine. The resulting electrolyte imbalance can have cascading effects on various bodily functions.