Gitelman Syndrome
Gitelman Syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb certain electrolytes, leading to imbalances in the body. It is caused by mutations in the SLC12A3 gene, which is responsible for the function of a specific transporter in the renal tubules. This condition often results in low levels of magnesium and potassium, as well as metabolic alkalosis.
Symptoms of Gitelman Syndrome may include muscle cramps, weakness, fatigue, and increased thirst. Diagnosis typically involves blood tests to check electrolyte levels and genetic testing to confirm the presence of mutations. Treatment usually focuses on managing symptoms and restoring electrolyte balance through dietary changes and supplements.