上海交通大学学报（医学版）

›› 2009, Vol. 29 ›› Issue (11): 1383-.

• 综述 • 上一篇    下一篇

常染色体显性遗传多囊肾病的研究

于国鹏, 综述；齐 隽, 审校   

  1. 上海交通大学 医学院新华医院 泌尿外科, 上海 200092
  • 出版日期:2009-11-25 发布日期:2009-11-24
  • 作者简介:于国鹏（1984—）, 男, 硕士生；电子信箱: yuguopeng22@163.com。

Research on autosomal dominant polycystic kidney disease

YU Guo-peng, reviewer；QI Jun, reviser   

  1. Department of Urologic Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China
  • Online:2009-11-25 Published:2009-11-24

PDF (PC)

1343

摘要：

多囊肾病是人体常见的一种先天性遗传性疾病，根据遗传方式的不同，可分为常染色体显性遗传多囊肾病及常染色体隐性遗传多囊肾病。除肾脏改变外，多囊肾病还可累及全身多个器官，严重危害人类的健康。近年来，多囊肾病的基因及发病机制的研究（尤其是分子生物学研究）、诊断和治疗都有了长足进步，文章对最常见的常染色体显性遗传多囊肾病的研究现状及进展作一综述。

关键词: 多囊肾病, 常染色体显性, 多囊蛋白, 基因

Abstract:

Polycystic kidney disease is a common human congenital hereditary disease, which can be divided into autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease by genetic methods. In addition to the kidney changes, polycystic kidney disease may also involve multiple body organs and seriously endanger human health. In recent years, studies on etiology and pathogenesis (especially molecular biology), diagnosis and treatment of polycystic kidney disease have progressed by leaps and bounds. This paper briefly summaries the research status and development of the most common autosomal dominant polycystic kidney disease.

Key words: polycystic kidney disease, autosomal dominant, polycystin, gene