纯合子载脂蛋白E2相关性肾小球病：三例报告及文献复习
Glomerulopathy with homozygous apolipoprotein e2: a report of three cases and review of the literature.
作者信息
Kawanishi Kunio, Sawada Anri, Ochi Ayami, Moriyama Takahito, Mitobe Michihiro, Mochizuki Toshio, Honda Kazuho, Oda Hideaki, Nishikawa Toshio, Nitta Kosaku
机构信息
Department of Medicine, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan ; Department of Pathology, Tokyo Women's Medical University, Tokyo, Japan.
Department of Medicine, Kidney Center, Tokyo Women's Medical University, Tokyo, Japan.
出版信息
Case Rep Nephrol Urol. 2013 Nov 28;3(2):128-35. doi: 10.1159/000356849. eCollection 2013 Jul.
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.
大多数III型高脂蛋白血症病例由载脂蛋白E2（apoE2）纯合子引起，这是一种apoE的基因突变（Arg158Cys）。纯合子apoE2相关性肾小球病罕见，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分析诊断的apoE2纯合子肾小球病病例。所有3例均为中老年男性，合并糖尿病至少十年。肾活检显示肾小球毛细血管中有大量泡沫细胞浸润，系膜增宽，并伴有糖尿病性肾小球硬化的组织学表现。血脂谱显示为III型高脂蛋白血症，表型/基因分析显示apoE2纯合子。其中2例出现肾病性蛋白尿，并在肾病诊断后3年和8年进展为肾衰竭。
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