Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes

被引：30
作者：
Simon, DB
Lifton, RP
机构：
[1] Yale Univ, Sch Med, Boyer Ctr Mol Med, Dept Med Nephrol, New Haven, CT 06510 USA
[2] Yale Univ, Sch Med, Boyer Ctr Mol Med, Dept Genet, New Haven, CT 06510 USA
来源：
CURRENT OPINION IN CELL BIOLOGY | 1998年 / 10卷 / 04期
关键词：
D O I：
10.1016/S0955-0674(98)80057-4
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
The successful merging of modern molecular genetics with basic renal physiology is exemplified by the recent description of the molecular basis of two classic diseases of clinical nephrology: Bartter's and Gitelman's syndromes of inherited hypokalemic alkalosis, Mutations in four different genes have been identified, each of which causes hypokalemic alkalosis, salt wasting and hypotension. These genetic studies have greatly advanced our understanding of renal physiology.
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收藏
页码：450 / 454
页数：5
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