《生命科学》 2010, 22(10): 1043-1046

PKHD1基因缺陷与常染色体隐性遗传性多囊肾病的研究进展

孙丽萍，张欣洲*

(暨南大学第二临床医学院深圳市人民医院肾内科，深圳 518020)

摘　要：

摘　要：PKHD1是目前所知人类常染色体隐性遗传多囊肾病(autosomal recessive polycystic kidney disease， ARPKD)的惟一致病基因。ARPKD临床病变以双肾多发性进行性充液囊泡为主要特征。目前对PKHDl基因在ARPKD发病中的作用了解并不多。该文对ARPKD的发病机制和PKHD1基因功能最新研究进展进行综述。
关键词：人类遗传性隐性多囊肾疾病；PKHD1；基因缺陷
中图分类号：R596; R692  文献标识码：A

    

 

Recent progress of PKHD1 gene defect and human autosomal recessive polycystic kidney disease

SUN Li-ping， ZHANG Xin-zhou*

(Department of Nephrology， Shenzhen People{$39}s Hospital， Second Clinical Medical College， Jinan University， Shenzhen 518020， China)

Abstract: Abstract: Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of autosomal recessive polycystic kidney disease (ARPKD)， which is characterized typically by massive enlargement of fluid-filled renal cysts. However， the precise mechanisms by which PKHD1 functions on the pathogenesis of ARPKD remain unclear. In this article we will give an overview on the basic information about recent progresses of PKHDl and summarize the possible role of defects of PKHDl on the pathogenesis of ARPKD.
Key words: human autosomal recessive polycystic kidney disease(ARPKD); PKHD1; gene defect