Warning Signs Of Bartter Syndrome

Bartter syndrome is a group of disorders characterized by genetically precipitated kidney function defects. The defects in Bartter syndrome make the kidney unable to effectively reabsorb salt from the blood, causing numerous electrolyte imbalances in the affected individual's body. Calcium, sodium, potassium, magnesium, and chloride are the mineral salts most commonly affected in individuals with Bartter syndrome. Mutations in one of several different genes can cause an individual to have Bartter syndrome, including the SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA, CLCNKB, and MAGED2 genes. Diagnosis of Bartter syndrome is made with the use of a thorough clinical evaluation, blood tests, urine analysis, and molecular genetic testing.