Understanding Bartter syndrome and Gitelman syndrome

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• 作者：Oliver T. Fremont (1)
  James C. M. Chan (1) (2) (3)
  
• 关键词：Bartter syndrome ; blood pressure control ; Gitelman syndrome ; NCCT ; NKCC2 ; potassium ; sodium
• 刊名：World Journal of Pediatrics
• 出版年：2012
• 出版时间：February 2012
• 年：2012
• 卷：8
• 期：1
• 页码：25-30
• 全文大小：183KB
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• 作者单位：Oliver T. Fremont (1)
  James C. M. Chan (1) (2) (3)
  
  1. The Barbara Bush Children鈥檚 Hospital, Maine Medical Center, Tufts University School of Medicine, Portland, Maine, USA
  2. Tufts University School of Medicine, Portland, USA
  3. The Barbara Bush Children鈥檚 Hospital, Maine Medical Center, 22 Bramhall Street, Portland, Maine, 04102-3175, USA
  

文摘

Background We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Data sources Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. Results The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Conclusions Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become lifethreatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.