von Schnakenburg Christian, Fliegauf Manfred, Omran Heymut
Pediatr Nephrol. 2007 Jun;22(6):765-9. doi: 10.1007/s00467-007-0434-1. Epub 2007 Feb 20.
Cystoproteins have been recognized to play a major role in the development of cystic kidney diseases (CKDs) via interaction with the cilia/centrosome complex. We highlight our present knowledge on nephrocystin as the defective protein in nephronophthisis type I. Nephrocystin has been localized to the ciliary transition zone not only of renal tubule cells but also of respiratory and retinal cilia. Thus, multi-system involvement as in Senior-Løken-syndrome (retinal degeneration plus nephronophthisis) can be explained by a functional ciliary defect in various tissues. In addition, we illustrate that ciliated respiratory cells have a high potential for diagnostics in CKDs and will further aid understanding of the underlying molecular mechanisms.
囊肿蛋白已被认为通过与纤毛/中心体复合体相互作用，在多囊肾病（CKD）的发展中起主要作用。我们着重介绍了目前关于nephrocystin作为I型肾单位肾痨中缺陷蛋白的认识。nephrocystin不仅定位于肾小管细胞的纤毛过渡区，也定位于呼吸道和视网膜纤毛的纤毛过渡区。因此，像Senior-Løken综合征（视网膜变性加肾单位肾痨）那样的多系统受累情况，可以通过各种组织中的功能性纤毛缺陷来解释。此外，我们还表明，有纤毛的呼吸道细胞在CKD诊断方面具有很大潜力，并将进一步有助于理解其潜在的分子机制。
