Bartter syndrome [11 genes]

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.

1/1,000,000

• Potassium chloride supplements
• Aldosterone receptor blockers
• Angiotensin-converting enzyme inhibitors
• Sodium channel blockers
• Non-steroidal anti-inflammatory drugs

The identification of genetic variants causing Bartter syndrome allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when Bartter syndrome is suspected, which may include the following clinical characteristics:

• Polyuria
• Hypokalemic metabolic alkalosis
• Loss of salts, potassium
• Dehydration
• Hypertrophy of the fit. juxtaglomerular, hyperaldosteronism
• Nephrocalcinosis