Gitelman syndrome is a rare inherited kidney disorder that affects how your body handles important minerals. When you have this condition, your kidneys lose too much magnesium, potassium, and salt through urine. This leads to low levels of these minerals in your blood and cells.
The condition is caused by a genetic mutation that affects a protein in your kidneys. This protein normally helps reabsorb minerals back into your bloodstream. When it does not work properly, your body cannot hold onto these essential nutrients. Gitelman syndrome is typically diagnosed in late childhood or adulthood, though the genetic mutation is present from birth.
While Gitelman syndrome is chronic, meaning it lasts a lifetime, most people can manage symptoms with proper treatment. The condition is much less severe than some other kidney disorders. Many people live normal, active lives once they understand their diagnosis and work with their healthcare team.