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Ion transporter mutations in Gitelman's and Bartter's syndromes

 

作者: David,   Simon Richard,  

 

期刊: Current Opinion in Nephrology and Hypertension  (OVID Available online 1998)
卷期: Volume 7, issue 1  

页码: 43-48

 

ISSN:1062-4821

 

年代: 1998

 

出版商: OVID

 

数据来源: OVID

 

摘要:

The application of modern techniques in molecular genetics to classic diseases in clinical nephrology is highlighted by the recent description of the molecular basis of Barrier's and Gitelman's syndromes, A series of detailed studies are described that have resulted in the identification of specific mutations in four different genes, each of which causes hypokalemic alkalosis, salt wasting and hypotension. The importance of these genetic studies in understanding renal physiology and the regulation of blood pressure, and in developing new therapeutic strategies is discussed.

 

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