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Discuss how studies of Gitelman’s and Bartter’s syndromes have helped us understand calcium and magnesium excretion by the hum
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Discuss how studies of Gitelman's and Bartter's syndromes have helped us understand calcium and magnesium excretion by the human kidney Identifying the causes of Gitelman's and Bartter's syndromes has greatly enhanced our understanding of ion transport by thick ascending limb and distal convoluted tubule cells. Bartter and Gitelman syndromes are renal tubular salt-wasting disorders in which the kidneys are unable to reabsorb sodium in the thick ascending limb of Henle or the distal convoluted tubule, depending on the mutation. Bartter's and Gitelman's syndromes result from mutation of specific ion transport proteins expressed by cells of the distal nephron. Lifton et al have described four areas of renal tubular defects. They are in the Na-K-2Cl transporter, the apical potassium channel, and the basal chloride channel in the thick ascending limb of Henle. A fourth defect, which causes a milder variant, known as Gitelman syndrome, is in the thiazide-sensitive Na-Cl cotransporter in the...
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