SourceAdvances in Chronic Kidney Disease, 13, 2, (2006), pp. 148-154
Article / Letter to editor
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Advances in Chronic Kidney Disease
SubjectIGMD 5: Health aging / healthy living; IGMD 9: Renal disorder; NCMLS 5: Membrane transport and intracellular motility; UMCN 5.4: Renal disorders
In the past decade our understanding of the etiology and pathophysiology of Gitelman syndrome, an autosomal recessive salt-losing tubular disorder with secondary hypokalemia, has increased considerably through the achievements of molecular genetics and cell physiology. In this short review, I will summarize the most recent data on the clinical and biochemical phenotype, the molecular causes, and the pathogenesis of Gitelman syndrome. I will especially focus on the recent elucidation of the mechanisms involved in the pathogenesis of the hypomagnesemia and hypocalciuria that accompanies Gitelman syndrome.
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