肾性尿崩症中的水通道蛋白2突变

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

作者信息

Loonen Anne J M, Knoers Nine V A M, van Os Carel H, Deen Peter M T

机构信息

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

出版信息

Semin Nephrol. 2008 May;28(3):252-65. doi: 10.1016/j.semnephrol.2008.03.006.

DOI:10.1016/j.semnephrol.2008.03.006

PMID:18519086

Abstract

Water reabsorption in the renal collecting duct is regulated by the antidiuretic hormone vasopressin (AVP). When the vasopressin V2 receptor, present on the basolateral site of the renal principal cell, becomes activated by AVP, aquaporin-2 (AQP2) water channels will be inserted in the apical membrane, and in this fashion, water can be reabsorbed from the pro-urine into the interstitium. The essential role of the vasopressin V2 receptor and AQP2 in the maintenance of body water homeostasis became clear when it was shown that mutations in their genes cause nephrogenic diabetes insipidus, a disorder in which the kidney is unable to concentrate urine in response to AVP. This review describes the current knowledge on AQP2 mutations in nephrogenic diabetes insipidus.

摘要

肾集合管中的水重吸收受抗利尿激素血管加压素（AVP）调节。当存在于肾主细胞基底外侧部位的血管加压素V2受体被AVP激活时，水通道蛋白2（AQP2）水通道将插入顶端膜，通过这种方式，水可以从原尿重吸收到间质中。当血管加压素V2受体和AQP2基因的突变导致肾性尿崩症（一种肾脏无法响应AVP浓缩尿液的疾病）时，血管加压素V2受体和AQP2在维持机体水平衡中的重要作用变得清晰起来。本综述描述了目前关于肾性尿崩症中AQP2突变的知识。