| [ Summary ] |
Bartter's syndrome and Gitelman's syndrome are inherited salt-losing tubulopathies which lead to hypokalemia and metabolic alkalosis. Our understanding of inherited salt-losing tubulopathies has improved with recent advances in molecular genetics. However, the terminologies related to Bartter’s syndrome and Gitelman's syndrome do not always accurately reflect their pathophysiological basis or clinical presentation. Some cases are difficult to diagnose due to clinical presentations. Basically the difference between these two diseases is described in two ways : 1) Bartter's syndrome is caused by defects in the channels or transporters located on the thick ascending limb of Henle's loop and Gitelman's syndrome is caused by defects in the transporters located on the distal tubules. 2) Gitelman's syndrome patients exhibit hypomagnesemia and hypocalciuria, not seen in Bartter's syndrome patinents. However, recent studies have suggested that type III Bartter's syndrome is derived primarily from defects in the distal tubules. Some type III Bartter's syndrome patients present with hypomagnesemia and hypocaiciuria. Because of these results, these terminologies are thought to be misleading and should be improved upon. Recently, Seyberth has proposed a new terminology combining these two diseases, termed salt-losing tubulopathy. This term is quite reasonable and should be generally accepted. |