Glomerulopathy with homozygous apolipoprotein e2: a report of three cases and review of the literature.

Case reports in nephrology and urology Pub Date : 2013-11-28 eCollection Date: 2013-07-01 DOI:10.1159/000356849

Kunio Kawanishi, Anri Sawada, Ayami Ochi, Takahito Moriyama, Michihiro Mitobe, Toshio Mochizuki, Kazuho Honda, Hideaki Oda, Toshio Nishikawa, Kosaku Nitta

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引用次数: 13

Abstract

Most cases of type III hyperlipoproteinemia are accounted for by apolipoprotein E2 (apoE2) homozygotes, a genetic mutation of apoE (Arg158Cys). Glomerulopathy with homozygous apoE2 is rare and characterized by marked foam cell infiltration in the glomerular capillaries and mesangium. Here, we report 3 cases of apoE2 homozygote glomerulopathy diagnosed by renal biopsy and DNA analysis. All 3 cases were middle-aged or elderly males complicated with diabetes for at least a decade. The kidney biopsies showed massive foam cell infiltration in the glomerular capillaries and expanded mesangium accompanied by histological findings of diabetic glomerulosclerosis. The lipid profiles showed type III hyperlipoproteinemia and phenotypic/genetic analyses revealed homozygosity of apoE2. Two of the cases showed nephrotic proteinuria and progressed to renal failure in 3 and 8 years after the diagnosis of kidney disease.

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纯合子载脂蛋白e2肾小球病:附3例报告及文献复习。

大多数III型高脂蛋白血症病例是由载脂蛋白E2 (apoE2)纯合子引起的，这是载脂蛋白e (Arg158Cys)的一种基因突变。纯合子apoE2的肾小球病是罕见的，其特征是肾小球毛细血管和系膜中有明显的泡沫细胞浸润。在此，我们报告3例经肾活检和DNA分析诊断为apoE2纯合子肾小球病。3例均为中老年男性，合并糖尿病10年以上。肾活检显示肾小球毛细血管内大量泡沫细胞浸润，系膜扩张，伴有糖尿病性肾小球硬化的组织学表现。脂质谱显示III型高脂蛋白血症，表型/遗传分析显示apoE2纯合子。其中2例表现为肾病性蛋白尿，在诊断肾病后3年和8年进展为肾衰竭。

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Case reports in nephrology and urology

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