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Gitelman Syndrome Presenting with Hypomagnesemia, Hypokalemia and Hypocalciuria: A Case Report

Gitelman syndrome is a a rarely seen autosomal recessive renal tubulopathy characterized by inherited hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The diagnosis of Gitelman syndrome is usually established during adolescence, but is also observed in childhood and even in the...

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Detalles Bibliográficos
Autores principales: Uzunlulu, Mehmet, Dumanoglu, Betul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Istanbul Medeniyet University 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433730/
https://www.ncbi.nlm.nih.gov/pubmed/32821454
http://dx.doi.org/10.5222/MMJ.2019.39000
Descripción
Sumario:Gitelman syndrome is a a rarely seen autosomal recessive renal tubulopathy characterized by inherited hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The diagnosis of Gitelman syndrome is usually established during adolescence, but is also observed in childhood and even in the adulthood period. In this case report, we presented a 19-year-old male patient who was diagnosed as Gitelman Syndrome and admitted to the hospital with symptoms of muscle weakness, cramps and weakness.