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   rare presentation of gitelman syndrome: a case report  
   
نویسنده khajavirad nasim ,shakiba saeed ,abbaszadeh mahsa ,karimpour reyhan sahar
منبع case reports in clinical practice - 2021 - دوره : 6 - شماره : 1 - صفحه:20 -24
چکیده    Gitelman syndrome (gs), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. gs presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. here, we present a 30-year-old woman without a medical history. she experienced an episode of tonic-clonic seizure, generalized muscle weakness, and severe hyponatremia as the first presentation of gs. the interesting point of this case was her late-onset presentation and the long period of her disease diagnosis; thus, it highlights the importance of considering this diagnosis.
کلیدواژه gitelman syndrome;hyponatremia
آدرس tehran university of medical sciences, school of medicine, department of internal medicine, iran, tehran university of medical sciences, school of medicine, department of internal medicine, iran, tehran university of medical sciences, school of medicine, department of internal medicine, iran, tehran university of medical sciences, school of medicine, department of internal medicine, iran
پست الکترونیکی saharkarimpour@yahoo.com
 
     
   
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