Gitelman syndrome is an autosomal recessive genetic tubulopathy characterized by renal salt wasting due to defective sodium chloride cotransporter SLC12A3. The loss of sodium and magnesium leads to loss of muscle
strength, fatigue, palpitations, and risk of heart failure . Early genetic diagnosis is critical to accurately diagnose the disease and direct treatment. Between 1% and 3% of patients with clinical features of Gitelman syndrome are
monoallelic carriers of mutations in the SLC12A3 gene, which suggests other forms of inheritance or even the presence of mutations in more than one gene related to sodium homeostasis (Bartter syndrome, hypomagnesemia).
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