Bartter syndrome (BS) encompasses a group of very similar kidney disorders that are characterized by an ionic imbalances of potassium, sodium, chlorine, and other ions. Excessive loss of salts and potassium leads to hypokalemic metabolic alkalosis with polyuria and hypercalciuria. con poliuria e hipercalciuria. These alterations can lead to nephrocalcinosis, osteopenia, muscle weakness, cramps, and fatigue. In some cases, it can lead to polyhydramnios in the fetus and hearing loss in children. Causative genetic defects are found in genes coding for chlorine and potassium channels, ion transporters and proteins associated with ion-transport complexes, and they follow autosomal recessive, autosomal dominant, and X-linked inheritance patterns.
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