Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
A 77-year-old woman developed nephrotic syndrome associated with type III hyperlipoproteinemia (III HLP) and increased apolipoprotein E (apo E). Apo E analysis disclosed E2/E3 heterozygosity in phenotypic and genotypic expressions, without any other mutations. A renal biopsy showed intraluminal and subendothelial thrombus-like deposits in the dilated capillary loops of the glomerulus that stained positive for lipids and apo E. Electron microscopy revealed tiny granular particles in the capillary lumina, as well as between the glomerular basement membrane and the endothelial cells. It was therefore concluded that III HLP associated with apo E2/E3 heterozygosity could induce lipoprotein glomerulopathy-like disease and nephrotic syndrome.
Karube
Miho
M
Division of Nephrology and Rheumatology, First Department of Internal Medicine, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, 181-0061, Japan.
Nakabayashi
Kimimasa
K
Division of Nephrology and Rheumatology, First Department of Internal Medicine, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, 181-0061, Japan. kimimasa@kyorin-u.ac.jp.
Fujioka
Yasunori
Y
Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan.
Yoshihara
Ken
K
Division of Nephrology and Rheumatology, First Department of Internal Medicine, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, 181-0061, Japan.
Yamada
Akira
A
Division of Nephrology and Rheumatology, First Department of Internal Medicine, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka, Tokyo, 181-0061, Japan.
Matsunaga
Akira
A
Division of Cardiology, Department of Internal Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
Saito
Takao
T
Division of Nephrology and Rheumatology, Department of Internal Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
D000368:Aged; D053329:Apolipoprotein E2 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005786:Gene Expression Regulation; D006579:Heterozygote; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000150:complications* / Q000235:genetics; D007678:Kidney Glomerulus / Q000378:metabolism / Q000473:pathology; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics*
D053329:Apolipoprotein E2