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.
Knoers
Nine V A M
NV
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. n.knoers@antrg.umcn.nl
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