常染色体隐性多囊肾的研究进展

Research progress on the Autosomal recessive polycystic kidney disease

常染色体隐性多囊肾病(ARPKD)是以肾小管囊肿(集合管系统为主)形成为特征,最终导致终末期肾病。ARPKD是由多囊肾肝疾病1(PKHD1)基因或DAZ相互作用蛋白1样基因(DZIP1L)突变引起。本课题组计划在外显子组测序的基础上进行全转录组测序,希望通过全转录组测序提高常染色体隐性遗传多囊性肾脏疾病的整体诊断率,并希望通过与数据库中的表达谱进行结果比对分析,进一步鉴定出新的致病变异,利用分析框架集中发掘患者独特的转录水平变化。本文主要对ARPKD突变基因、相关基因测序进展、临床表现及治疗进行综述。

Autosomal recessive polycystic kidney disease(ARPKD)is characterized by the formation of tubular cysts(mainly collecting duct system)that eventually lead to end-stage renal disease.At present,related researches have shown that the pathogenesis of ARPKD is mainly related to the mutation of PKHD1 gene and DZIP1L gene.Our team will conduct RNA-seq on the basis of the whole transcriptome sequencing in order to improve the diagnostic rate of ARPKD,and identify the new pathogenic mutations by comparing spectrum analysis results with the database of expression.In addition,we hope to further idetify new pathogenic mutations and to discover unique transcription level of patients by using the analysis framework.This article reviews mainly the mutant gene of ARPKD,related gene sequencing,clinical manifestations and treatment of ARPKD.