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Gitelman Syndrome is a rare genetic disorder affecting the kidneys’ ability to reabsorb certain electrolytes, primarily sodium, magnesium, and potassium. It results from mutations in the SLC12A3 gene, which impairs the function of the thiazide-sensitive sodium-chloride cotransporter in the distal convoluted tubule of the kidney. This leads to excessive loss of salts and minerals through urine, causing chronic hypokalemia (low potassium), hypomagnesemia (low magnesium), and metabolic alkalosis.

The condition typically manifests in adolescence or early adulthood with symptoms such as muscle cramps, fatigue, dizziness, salt craving, and low blood pressure. Some individuals may also experience tingling sensations, irregular heartbeats, or muscle weakness. Unlike Bartter syndrome, which affects an earlier segment of the nephron, Gitelman Syndrome usually presents with milder but chronic symptoms.

Diagnosis involves blood tests, urine analysis, and genetic testing to confirm mutations in the SLC12A3 gene. Although there is no permanent cure, treatment focuses on correcting electrolyte imbalances through oral potassium and magnesium supplements and maintaining adequate salt intake. With proper management, most individuals with Gitelman Syndrome can lead normal and active lives, though lifelong monitoring is essential.