Autosomal dominant polycystic kidney disease: Molecular genetics and pathophysiology

被引:100
作者
Sutters, M
Germino, GG
机构
[1] Johns Hopkins Bayview Med Ctr, Div Renal Med, Baltimore, MD 21224 USA
[2] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21218 USA
来源
JOURNAL OF LABORATORY AND CLINICAL MEDICINE | 2003年 / 141卷 / 02期
关键词
D O I
10.1067/mlc.2003.13
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
In autosomal dominant polycystic kidney disease (ADPKD), the precise steps leading to cyst formation and loss of renal function remain uncertain. Pathophysiologic studies have suggested that renal tubule epithelial cells form cysts as a consequence of increased proliferation, dedifferentiation, and transition to a secretary pattern of transepithelial-fluid transport. Since the cloning of two genes implicated in ADPKD, there has been an explosion of information about the functions of the gene products polycystin 1 and 2. In this review, we discuss what is known of the functions of the polycystins and how this information is providing important insights into the molecular pathogenesis of ADPKD.
引用
收藏
页码:91 / 101
页数:11
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