Cai Yiqiang, Tang Zhangui
Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06510, USA.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010 Feb;35(2):93-9. doi: 10.3969/j.issn.1672-7347.2010.02.001.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human hereditary disorder characteristic of development of bilateral multiple fluid-filled kidney cysts. Accumulated evidence has suggested that primary cilium of renal epithelial cell plays a key role in cystogenesis. In this article we will give an overview on the basic information about polycystic kidney disease (PKD) and summarize the recent progresses in studies of regulation of polycystin-1 and -2 trafficking to cilia. We will also discuss the possible role of trafficking defects of polycystins on the pathogenesis of ADPKD.
常染色体显性多囊肾病(ADPKD)是最常见的人类遗传性疾病之一,其特征是双侧多个充满液体的肾囊肿形成。越来越多的证据表明,肾上皮细胞的初级纤毛在囊肿形成中起关键作用。在本文中,我们将概述多囊肾病(PKD)的基本信息,并总结多囊蛋白-1和-2转运至纤毛的调节研究的最新进展。我们还将讨论多囊蛋白转运缺陷在ADPKD发病机制中的可能作用。