Saunier Sophie, Salomon Rémi, Antignac Corinne
Inserm U574 and Department of Genetics, Paris 5 University, Necker Hospital, 149 rue de Sèvres, 75015 Paris, France.
Curr Opin Genet Dev. 2005 Jun;15(3):324-31. doi: 10.1016/j.gde.2005.04.012.
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene defects. These genes encode proteins that localize in different cell compartments - in particular, to the primary apical cilia - as is the case for virtually all gene products involved in cystic kidney diseases. Two animal models with mutations in the mouse orthologs of the genes involved in the adolescent and infantile forms also exist. These models have been of considerable help in deciphering disease pathogenesis.
在过去几年里，在理解肾单位肾痨的分子基础方面取得了巨大进展，现在很明显，这种疾病具有临床和遗传异质性。在三种不同的临床形式中存在广泛的表型谱，迄今为止，这些表型与五种基因缺陷有关。这些基因编码的蛋白质定位于不同的细胞区室，特别是初级顶纤毛，几乎所有参与多囊肾病的基因产物都是如此。也存在两种动物模型，其在青少年和婴儿型所涉及基因的小鼠直系同源基因中发生了突变。这些模型在解释疾病发病机制方面有很大帮助。
