Bartter syndrome is a hereditary condition transmitted as an autosomal recessive or dominant trait and is characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. It is a consequence of the abnormal function of the kidneys, which become unable to properly regulate the volume and composition of body fluids due to defective reabsorption of NaCl in a specific structure of the kidney called the 'loop of Henle'.
Prevalence In a report from the Framingham Heart Study, the prevalence of Bartter syndrome was 1 in 1,000,000. Bartter syndrome can be classified based on the underlying genetics: Type 1 – Antenatal Bartter syndrome: Results from mutations in SLC12A1, the sodium-chloride-potassium cotransporter gene Type 2 – Antenatal/neonatal Bartter syndrome: Results from mutations in the ROMK gene Type 3 – Classic Bartter syndrome:…
