Meneton P, Oh Y S, Warnock D G
INSERM U367, Paris, France.
Semin Nephrol. 2001 Mar;21(2):81-93. doi: 10.1053/snep.2001.21210.
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.
这种关于遗传性肾小管转运障碍的观点选择性地回顾了肾顶端钠（Na⁺）转运系统的病理生理学。这些转运体在细胞外液容量和血压的控制中起着至关重要的作用。近年来，在理解这些基因在孟德尔形式的细胞外容量稳态障碍中的作用方面取得了重大进展。更为重要的将是对调节钠（Na⁺）转运系统表达和活性的各种因素的持续定义。这些调节途径以及对饮食盐分、压力等环境因素的反应，可能决定肾顶端钠（Na⁺）转运体遗传疾病所导致的临床表型的出现、严重程度和复杂性。
