Genetic renal tubular disorders of renal ion channels and transporters

被引：13

作者：

Meneton, P

Oh, YS

Warnock, DG

机构：

[1] Univ Alabama Birmingham, Ctr Nephrol Res & Training, Dept Med, Birmingham, AL 35294 USA

[2] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA

[3] Univ Alabama Birmingham, Dept Neurobiol, Birmingham, AL 35294 USA

[4] Univ Alabama Birmingham, Dept Physiol & Biophys, Birmingham, AL 35294 USA

[5] INSERM, U367, Paris, France

来源：

SEMINARS IN NEPHROLOGY | 2001年 / 21卷 / 02期

关键词：

D O I：

10.1053/snep.2001.21210

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

This perspective on genetic renal tubular transport disorders selectively reviews the pathophysiology of renal apical Na+ transport systems. These transporters play an essential role in the control of extracellular fluid volume and blood pressure. Significant advancements in the understanding of the role of these genes in Mendelian forms of extracellular volume homeostatic disorders have been achieved in the recent years. Of even greater importance will be the ongoing definition of the various factors that regulate the expression and activity of the Na+ transport systems. These regulatory pathways, and the responses to environmental factors such as dietary salt, stress, and so on, may determine the appearance, severity and complexity of the clinical phenotypes that result from genetic disorders of the renal apical Na+ transporters. Copyright © 2001 by W.B. Saunders Company.

引用

页码：81 / 93

页数：13

共 96 条

[1]

Abuladze N, 1998, J AM SOC NEPHROL, V9, P819

[2] Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension [J].