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Molecular pathophysiology of Bartter's and Gitelman's syndromes

World Journal of Pediatrics 2015年第2期11卷 113-125页

作者： Efstathios Koulouridis Ioannis Koulouridis Nephrology Department General Hospital of CorfuGreece St.Elizabeth's Medical Center BostonUSA

Background:In the last two decades,progress in cytogenetic and genome research has enabled investigators to unravel the underlying molecular mechanisms of inherited tubulopathies such as Bartter's and Gitelman's syndromes and helped physicians to better understand not only these two pathologic entities but also renal pathophysiology and salt sensitive *** sources:Articles collected from PubMed and open access journals included original articles,research articles,and comprehensive *** were evaluated by the authors with an special emphasis on originality and up to date information about molecular ***:Bartter's and Gitelman's syndromes are two different inherited salt loosing *** are characterized by various inability of distal nephron to reabsorb sodium chloride with resultant extarcellular volume contraction and increased activity of the renin angiotensin aldosterone *** metabolic alkalosis is a common feature of these two forms of *** characterizes the majority of Bartter's syndrome,and hypomagnesemia with hypocalciuria characterizes Gitelman's *** blood pressure is a common feature among patients who suffered from these ***'s syndromes encompass a heterogeneous group of ion channels defects localized at the thick ascending limp of Henle's loop with resultant loss of function of sodium-potassium-2 chloride *** defects result in the impairment of the countercurrent multiplication system of the kidney as well as calcium,potassium and acid base disturbances which in the majority of cases are proved lethal especially in the antenatal and/or immediate postnatal life *** underlying pathology in Gitelman's syndrome is defined to the distal convoluted tubule and is related to loss of function of the sodium-chloride *** results of this defect encompass the inability of extracellular volume homeostasis,magnesium and

关键词： Bartter's syndrome calcium reabsorption Gitelman's syndrome magnesium reabsorption salt loosing tubulopathies

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