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Vol. 114, No. 4, 2010
Issue release date: April 2010
Section title: Original Paper
Nephron Clin Pract 2010;114:c260–c267
(DOI:10.1159/000276578)

Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China

Han J.a · Pan Y.a · Chen Y.a · Li X.b · Xing G.c · Shi J.d · Hou P.a · Zhang H.a · Wang H.a
aRenal Division, Peking University, First Hospital and bRenal Division, Traditional Chinese Medicine University, Dongzhimen Hospital, Beijing, cRenal Division, First Hospital, Qingdao Medical University, Qingdao, and dRenal Division, Tanggu Hospital, Tianjin, China

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 4/27/2009
Accepted: 9/16/2009
Published online: 1/20/2010
Issue release date: April 2010

Number of Print Pages: 1
Number of Figures: 4
Number of Tables: 2

ISSN: (Print)
eISSN: 1660-2110 (Online)

For additional information: http://www.karger.com/NEC

Abstract

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.


  

Author Contacts

Yuqing Chen
Renal Division, Peking University, First Hospital
No.8, Xishiku Street, Xicheng District, Beijing, 100034 (China)
Tel. +86 10 6655 1122 2388, Fax +86 10 6655 1055
E-Mail chenyuqing112@hotmail.com

  

Article Information

J.H. and Y.P. contributed equally to this paper.

Received: April 27, 2009
Accepted: September 16, 2009
Published online: January 20, 2010
Number of Print Pages : 8
Number of Figures : 4, Number of Tables : 2, Number of References : 23

  

Publication Details

Nephron Clinical Practice

Vol. 114, No. 4, Year 2010 (Cover Date: April 2010)

Journal Editor: El Nahas M. (Sheffield)
ISSN: 1660-2110 (Print), eISSN: 1660-2110 (Online)

For additional information: http://www.karger.com/NEC


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 4/27/2009
Accepted: 9/16/2009
Published online: 1/20/2010
Issue release date: April 2010

Number of Print Pages: 1
Number of Figures: 4
Number of Tables: 2

ISSN: (Print)
eISSN: 1660-2110 (Online)

For additional information: http://www.karger.com/NEC


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