Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Abstract Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis. It is commonly caused by an inactivating mutation in the SLC12A3 gene (16q13), which encodes a thiazide-sensitive sodium chloride cotransporter. Here, we present three cases with the same clinical and laboratory findings that showed different mutations in the SLC12A3 gene. Case presentation Three children, a 14-year-old boy, a 7-year-old girl, and an 11-year-old boy, were admitted to our hospital at different times with nausea, weakness, muscle cramps in hands, and failure to thrive complaints. Blood tests showed hypokalemia, hypomagnesemia and metabolic alkalosis. Patients were referred to Pediatric Nephrology Clinic and diagnosed with Gitelman syndrome. Genetic tests of three cases showed homozygous mutations of c.1928C > T, p.Pro643Leu, c.248G > A, p.Arg83Gln, and c.1919A > G, p.N640S in the SLC12A3 gene exists, respectively. Potassium chloride, magnesium replacements, and indomethacin were given for treatment to patients. During follow-up, patients' heights and weights were increased dramatically, and nausea complaints were over. Conclusion Different mutations in the SLC12A3 gene in Gitelman syndrome can be detected but clinical, and laboratory findings were generally similar. Treatment with potassium, magnesium supplements, and indomethacin showed significant improvements in symptoms.