Gitelman Syndrome (SLC12A3)
Gitelman syndrome is an autosomal recessive, pan-ethnic disease caused by pathogenic variants in the gene SLC12A3. In this disease, the kidney does not retain necessary ions, causing an imbalance in the body. Symptoms usually begin in late childhood or adolescence, and include muscle spasms or cramps, tingling sensations, joint pain and fatigue. Most patients have mild symptoms, but severe ion imbalances could lead to seizures or heart arrhythmias. With treatment, including dietary management, patients have a normal life expectancy. It is not currently possible to predict the severity of symptoms based on the variants inherited.
For information about carrier frequency and residual risk, please see the residual risk table.