| PKHD1基因缺陷与常染色体隐性遗传性多囊肾病的研究进展 |
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| 引用本文： | 孙丽萍,张欣洲.PKHD1基因缺陷与常染色体隐性遗传性多囊肾病的研究进展[J].生命科学,2010(10):1043-1046. |
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| 作者姓名： | 孙丽萍 张欣洲 |
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| 作者单位： | 暨南大学第二临床医学院深圳市人民医院肾内科,深圳518020 |
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| 基金项目： | 深圳市科技计划项目（200802092） |
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| 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。
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| 关 键 词： | 人类遗传性隐性多囊肾疾病 PKHD1 基因缺陷 |
Recent progress of PKHD1 gene defect and human autosomal recessive polycystic kidney disease |
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| SUN Li-ping,ZHANG Xin-zhou.Recent progress of PKHD1 gene defect and human autosomal recessive polycystic kidney disease[J].Chinese Bulletin of Life Sciences,2010(10):1043-1046. |
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| Authors: | SUN Li-ping ZHANG Xin-zhou |
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| Institution: | (Department of Nephrology,Shenzhen People’s Hospital,Second Clinical Medical College,Jinan University,Shenzhen 518020,China) |
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| 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 enlarge-ment of fluid-filled renal cysts.However,the precise mechanisms by which PKHD1 functions on the pathogen-esis 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. |
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| Keywords: | human autosomal recessive polycystic kidney disease（ARPKD） PKHD1 gene defect |
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