Gitelman syndrome DD thiazide diuretics abuse

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• 作者：Karsten Keller (1)
  Johannes Beule (2)
  Wolfgang Dippold (2)
  
• 关键词：Gitelman ; Hypokalemia ; Hypomagnesaemia ; Hypocalciuria ; SLC12A3 ; NaCl cotransporter
• 刊名：Central European Journal of Medicine
• 出版年：2014
• 出版时间：June 2014
• 年：2014
• 卷：9
• 期：3
• 页码：495-499
• 全文大小：314 KB
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• 作者单位：Karsten Keller (1)
  Johannes Beule (2)
  Wolfgang Dippold (2)
  
  1. Department of Medicine II, University Medical Center Mainz, Johannes Gutenberg-University Mainz, 55131, Mainz, Germany
  2. Department of internal medicine, St. Vincenz and Elisabeth Hospital Mainz (KKM), 55131, Mainz, Germany
  
• ISSN：1644-3640

文摘

Introduction. Gitelman syndrome (GS) is a rare inherited disorder. Mutations in SLC12A3 gene that encode tubular Na+Cl-cotransporter (NCCT) cause hypokalemic metabolic alkalosis, salt loss, hypomagnesaemia and hypocalciuria. The symptoms include weakness, vertigo, hypotension, tetany, paresthesia and nausea. Diagnostic criteria are a normal urine concentrating ability, normal glomerular filtration rate (GFR), hypomagnesaemia (