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Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis

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 diagno...

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Detalles Bibliográficos
Autores principales: Jalalzadeh, Mojgan, Garcia Goncalves de Brito, David, Chaudhari, Shobhana, Poor, Armeen D, Baumstein, Donald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088595/
https://www.ncbi.nlm.nih.gov/pubmed/33954067
http://dx.doi.org/10.7759/cureus.14253
Descripción
Sumario: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.