İlknur Girişgen

Early-Onset Gitelman Syndrome With Normomagnesemia and Absence of Metabolic Alkalosis: Expanding the Phenotypic Spectrum

AbstractGitelman syndrome is an autosomal recessive tubulopathy caused by SLC12A3 mutations and typically presents with hypokalemia, metabolic alkalosis, and hypomagnesemia. However, atypical phenotypes are increasingly recognized. We report a four-year-old child with recurrent h...