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Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
Mojgan Jalalzadeh1, David Garcia Goncalves de Brito2, Shobhana Chaudhari3
1Internal Medicine/Nephrology, Metropolitan Hospital Center, New York Medical College, New York, USA.
Abstract:
Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS.
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