NDT Advance Access originally published online on November 28, 2007
Nephrology Dialysis Transplantation 2008 23(2):751-756; doi:10.1093/ndt/gfm675
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© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org
A novel variant apolipoprotein E Okayama in a patient with lipoprotein glomerulopathy
1Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan, 2Division of Nephrology and Rheumatology, Fukuoka University School of Medicine, Fukuoka, Japan, 3Division of Cardiology, Department of Internal Medicine, Fukuoka University School of Medicine, Fukuoka, Japan and 4Department of Pathology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan
Correspondence and offprint requests to: Hitoshi Sugiyama, Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Okayama 700-8558, Japan. Tel: +81-86-235-7235; Fax: +81–86-222-5214; E-mail: hitoshis@md.okayama-u.ac.jp
Keywords: apolipoprotein E; fibrate; hyperlipidemia; proteinuria; renal lipidosis
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| Introduction |
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Lipoprotein glomerulopathy (LPG) is a rare disorder characterized by lipoprotein thrombi in the intraglomerular capillaries and high serum concentrations of apolipoprotein E (apoE). In 1989, Saito et al. [2,3]. Patients with LPG usually present with nephrotic syndrome and a relatively rapid progression to end-stage renal failure.
Human apoE is composed of 299 amino acids and mediates tissue uptake of triglyceride-rich lipoproteins through both low-density lipoprotein (LDL) receptor and LDL-receptor-related protein pathways. Genetic variations at the apoE gene locus code for three different major isoforms designated E2, E3 and E4, representing their migration characteristics of isoelectric focusing (IEF). The wild-type allele is apoE3, while apoE2 (Arg158Cys) and apoE4 (Cys112Arg) are less common. ApoE3 and apoE4 are thought to bind equally to the lipoprotein receptors, whereas apoE2 is defective in its lipoprotein receptor binding [4]. Homozygosity for apoE2 (Arg158Cys) results in the development of type
| Case report |
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Pathologic findings
Phenotype, genotype and DNA sequence analysis of apoE
Clinical course
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