Department II of Internal Medicine and Center for Molecular Medicine Cologne, Cologne, Germany.
Curr Opin Nephrol Hypertens. 2012 May;21(3):272-8. doi: 10.1097/MNH.0b013e3283520f17.
Nephronophthisis (NPH) comprises a group of autosomal recessive cystic kidney diseases and is the most frequent genetic cause of end-stage renal disease in children and adolescents. Causative mutations in more than a dozen genes have been identified that encode for the NPH protein family. Almost all of these proteins localize to primary cilia leading to the classification of NPH as a ciliopathy. The purpose of this review is to highlight the latest research on the molecular pathogenesis of the ciliopathy NPH.
Recent identification of novel disease causing genes and research on the localization and signaling function of nephrocystins have paved the way to a more detailed understanding of the molecular and cellular pathology of NPH and associated ciliopathies.
Here we discuss the most recently identified NPH related genes, the role of the NPH protein complex in ciliary biology and recently discovered functions of NPH proteins in cellular signaling.
肾单位肾痨（NPH）是一组常染色体隐性遗传性囊性肾病，是儿童和青少年终末期肾病的最常见遗传原因。已经确定了十多个编码 NPH 蛋白家族的致病基因突变。几乎所有这些蛋白质都定位于初级纤毛，导致 NPH 被分类为纤毛病。本综述的目的是强调纤毛病 NPH 的分子发病机制的最新研究。
最近鉴定出的新的致病基因以及对肾囊蛋白的定位和信号转导功能的研究，为更详细地了解 NPH 和相关纤毛病的分子和细胞病理学铺平了道路。
在这里，我们讨论了最近发现的与 NPH 相关的基因、NPH 蛋白复合物在纤毛生物学中的作用以及最近发现的 NPH 蛋白在细胞信号转导中的功能。
