Gitelman Syndrome

@article{citeulike:2806735, abstract = {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.}, author = {Knoers, Nine V. }, booktitle = {Genetic Diseases of the Kidney}, citeulike-article-id = {2806735}, doi = {10.1053/j.ackd.2006.01.014}, journal = {Advances in Chronic Kidney Disease}, month = {April}, number = {2}, pages = {148--154}, posted-at = {2008-05-17 11:02:05}, priority = {2}, title = {Gitelman Syndrome}, url = {http://dx.doi.org/10.1053/j.ackd.2006.01.014}, volume = {13}, year = {2006} }

TY - JOUR ID - citeulike:2806735 L3 - citeulike-article-id:2806735 TI - Gitelman Syndrome T2 - Genetic Diseases of the Kidney JF - Advances in Chronic Kidney Disease VL - 13 IS - 2 SP - 148 EP - 154 N2 - 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. AU - Knoers, Nine PY - 2006/04// UR - http://dx.doi.org/10.1053/j.ackd.2006.01.014 ER -