Gitelman syndrome.
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.
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. n.knoers@antrg.umcn.nl
Nine V A M
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Knoers
D000818:Animals; D002118:Calcium / Q000378:metabolism; D003937:Diagnosis, Differential; D006801:Humans; D007008:Hypokalemia / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D017136:Ion Transport; D007674:Kidney Diseases / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D007684:Kidney Tubules / Q000378:metabolism*; D008274:Magnesium / Q000378:metabolism; D011188:Potassium / Q000378:metabolism; D013577:Syndrome
D008274:Magnesium; D011188:Potassium; D002118:Calcium