Gitelman syndrome is a genetic disorder that occurs as the result of a specific problem with the kidney’s function such as its ability to reabsorb the salt. As the result, various electrolyte imbalances occurs particularly the potassium, calcium, sodium and magnesium. The symptoms of this syndrome vary greatly among the affected individuals and can be detected during the late childhood or adulthood. Gitelman syndrome is estimated to affect around 1 in 40,000 individuals globally.
Causes
Gitelman syndrome occurs as the result of a genetic mutation that is identified in the gene SLC12A3 and rarely develops when the mutation occurs in the gene CLCNKB. The proteins that are produced by these two genes are necessary for the reabsorption of salt back into the bloodstream from the urine by the kidney. The mutation affects the kidney’s function to reabsorb the salt and as the result, the salt is lost in the urine. Hence, the features that are characteristic of this condition develop. Gitelman syndrome is inherited in an autosomal recessive pattern meaning both the copies of the gene in each cell from the parents are defective. The parents of the individual with this syndrome each have a mutated gene but don’t necessarily exhibit any of the symptoms associated with this condition.
Symptoms
Few affected individuals can develop chronic symptoms while others can live without developing any. Some of the symptoms include muscle weakness, cramps, spasms, fatigue and dizziness. They can also experience vomiting, diarrhea or constipation, abdominal pain, fever, seizures and the loss of sensation of the face. Additional symptoms include excessive thirst, frequent need to urinate, abnormally low blood pressure and the craving for salt foods. Some of the cases can also experience irregular heartbeats as the result of significant electrolyte imbalance which can continue to cause sudden cardiac arrest and death.
Diagnosis
The diagnosis is based on the identification of the features that are characteristic of this syndrome, a thorough clinical evaluation and with various tests. Some of the laboratory tests include blood tests to evaluate the serum electrolyte levels particularly the low level of magnesium and high levels of renin. In addition, the urine tests can identify the elevated levels of sodium and potassium and the low levels of calcium. A genetic test can confirm the mutation in the gene that is responsible for causing this condition.
Treatment
There is no cure for Gitelman syndrome. The treatment for this condition is based on the symptoms that are evident in each case. Individuals who exhibit no symptoms do not require any treatment but require to be evaluated few times a year. The main treatment includes oral potassium and magnesium supplements. Those affected with the Gitelman syndrome are recommended to maintain a high-sodium and potassium diet.
References
https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome
https://ghr.nlm.nih.gov/condition/gitelman-syndrome#inheritance
https://rarediseases.org/rare-diseases/gitelman-syndrome/
