ISSN 1006-298X      CN 32-1425/R

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肾脏病与透析肾移植杂志 ›› 2013, Vol. 22 ›› Issue (2): 166-169.

• 论文 • 上一篇    下一篇

常染色体显性多囊肾病的新认识

  

  • 出版日期:2013-04-28 发布日期:2013-04-29

Current Advances in Autosomal Dominant Polycystic Kidney Disease

  • Online:2013-04-28 Published:2013-04-29

摘要:

摘要:常染色体显性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)是一种最常见的单基因遗传性肾病,以肾脏囊肿及一系列肾外表现为临床特点,由于高发病率及预后不良,近年来成为肾脏病学领域的一个研究热点。其发病机制尚未明确,一般认为,ADPKD是由于基因突变导致突变基因PKD1、PKD2异常而发病,纤毛致病学说是目前的研究热点。近年来,国内外进行了很多相关的基础与临床研究,发病机制、诊断、治疗方面都有了很大进步,包括提出新的发病机制如炎症在ADPKD发病中起的作用;评估各种诊断方法,如应用生物标志物;发现新的治疗靶点等。本文就其目前的研究现状及最新进展做一综述。

Abstract:

Abstract: Autosomal dominant polycystic kidney disease is the most common single-gene inherited kidney disease, it is characterized by kidney cysts and a range of extra-renal performance, due to its high incidence and poor prognosis,it becomes one of the most hot spots of the research in the field of nephrology. Its pathogenesis is not yet clear, it is generally believed ADPKD is caused by mutations in the gene PKD1, PKD2, abnormal cilia’s roles in pathogenesis is hot in recent research. In recent years, there were a number of related basic and clinical researches at home and abroad, which were progress in pathogenesis, diagnosis, and treatment emerges including the newly proposed pathogenesis such as the role of inflammation, as well as assessment of various diagnostic methods, applications of biomarkers, and discovery of new therapeutic targets. This paper briefly summaries the current research status and recent development.