[Gitelman syndrome in a 11 year old boy: incidental or delayed diagnosis?].
A. Gamboni, A Perino, Giovanni Montrasio
Abstract
A. Gamboni, A Perino, Giovanni Montrasio
Abstract
Gitelman syndrome (GS) is a heritable renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. Patients with GS usually have mild symptoms as muscular weakness and cramps, and they often are diagnosed in older age during routine investigation. We report a 11 year old boy with GS.
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Gitelman syndrome (GS) is a heritable renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. Patients with GS usually have mild symptoms as muscular weakness and cramps, and they often are diagnosed in older age during routine investigation. We report a 11 year old boy with GS.
Key concepts: Hypocalciuria, Hypomagnesemia, Hypokalemia, Metabolic alkalosis, Gitelman syndrome, Medicine, Pediatrics, Weakness