Bartter syndrome (BS) groups a group of very similar kidney disorders that are characterized by an ionic imbalance of potassium, sodium, chlorine, and other ions. The excess loss of salts and potassium leads to a state of hypokalemic metabolic alkalosis with polyuria and hypercalciuria. These alterations can lead to nephrocalcinosis, osteopenia, muscle weakness, cramps, and fatigue. In some cases, it can cause polyhydraminosis in the fetus and hearing loss in children. The genetic defects causing this syndrome are associated with genes that encode chloride and potassium channels, ion transporters, proteins associated with ion transport complexes, with a recessive, dominant, and X-linked inheritance pattern.
It should be noted that there are overlapping forms of Bartter syndrome, known as Bartter-like, whose genes are important to rule out differential diagnoses.
