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学科主题: 临床医学
题名:
Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China
作者: Han, Jia1; Pan, Yongli1; Chen, Yuqing1; Li, Xia2; Xing, Guangqun3; Shi, Junhua4; Hou, Ping1; Zhang, Hong1; Wang, Haiyan1
关键词: Lipoprotein glomerulopathy ; Apolipoprotein E ; APOE mutations
刊名: NEPHRON CLINICAL PRACTICE
发表日期: 2010
DOI: 10.1159/000276578
卷: 114, 期:4, 页:C260-C267
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Urology & Nephrology
研究领域[WOS]: Urology & Nephrology
关键词[WOS]: ACID DELETION ; VARIANT ; APOE ; RECEPTOR ; PATIENT ; BINDING
英文摘要:

Background: Lipoprotein glomerulopathy (LPG) is a unique disease characterized by thrombus-like lipoprotein deposition in glomeruli and an increased serum apolipoprotein E level (ApoE protein or APOE gene). Several APOE mutations contribute to the occurring of LPG. Methods: We confirmed LPG in 7 individuals by renal biopsy, and investigated families of 2 patients with urinalysis, serum creatinine and serum lipid examination. Exons of APOE of all individuals as well as their relatives were amplified and sequenced directly. Results: Two types of APOE mutations were identified in the 7 patients and their relatives. APOE Maebashi (Arg142-Leu144 -> 0) heterozygotes were found in 5 individuals who were from 4 different families. APOE Kyoto (Arg25-Cys) was confirmed heterogeneous in another 2 individuals. Both mutations present incomplete penetrance. Conclusion: Our research indicates that APOE Maebashi (Arg142-Leu144 -> 0) is a common mutation in Chinese LPG. However, not all carriers of the 2 mutations have LPG, although hyperlipidemia and high serum ApoE level are tested. There are likely other reasons, such as a local mechanism in the glomeruli, which participated in the renal injury. Copyright (C) 2010 S. Karger AG, Basel

语种: 英语
所属项目编号: ZD199910 ; 2003-2001 ; 985-2-007-113
项目资助者: Capital Medical Development ; Grant for Excellent Scientist
WOS记录号: WOS:000273804900009
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57599
Appears in Collections:北京大学第一临床医学院_肾脏内科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Div Renal, Beijing 100034, Peoples R China
2.Tradit Chinese Med Univ, Dongzhimen Hosp, Div Renal, Beijing, Peoples R China
3.Qingdao Med Univ, Hosp 1, Div Renal, Qingdao, Peoples R China
4.Tanggu Hosp, Div Renal, Tianjin, Peoples R China

Recommended Citation:
Han, Jia,Pan, Yongli,Chen, Yuqing,et al. Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China[J]. NEPHRON CLINICAL PRACTICE,2010,114(4):C260-C267.
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