Bartter Syndrome

Bartter syndrome is a rare inherited kidney disorder characterized by an impaired ability to reabsorb sodium, potassium, and chloride in the thick ascending limb of the loop of Henle, leading to excessive salt and water loss through urine. This autosomal recessive disorder results in electrolyte imbalances such as hypokalemia, hypochloremia, and metabolic alkalosis. It affects both males and females equally and is often detected during infancy or early childhood. Symptoms include poor growth, muscle weakness, fatigue, dehydration, frequent urination, salt craving, and low blood pressure. In severe cases, patients may experience nephrocalcinosis, kidney stones, and mild hearing loss.

There are several types of Bartter syndrome—antenatal and classical forms being most recognized. The antenatal type appears before birth and often leads to polyhydramnios and premature delivery, while the classical type usually manifests in early childhood with milder but chronic symptoms. Diagnosis involves clinical evaluation and confirmation through genetic testing. Treatment focuses on correcting electrolyte disturbances using potassium and magnesium supplements, nonsteroidal anti-inflammatory drugs (NSAIDs), and sometimes diuretics. With proper management, individuals generally have a good prognosis and can maintain normal growth and kidney function.