Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2.
Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2.
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DOI：
10.1159/000487919
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发表时间：
2018-01
影响因子：
0.7
通讯作者：
Saito T
中科院分区：
文献类型：
--
作者：
Fukunaga M;Nagahama K;Aoki M;Shimizu A;Hara S;Matsunaga A;Muso E;Saito T
一例20岁女学生因偶发蛋白尿和血尿而行肾活检。光镜下组织学检查显示膜性肾病样外观。免疫荧光法观察肾小球免疫球蛋白和补体均为阴性。另一方面，血浆载脂蛋白E （ApoE）浓度升高至正常范围的2倍以上，ApoE的表型、基因型和DNA序列研究显示ApoE2/2纯合子和ApoE Toyonaka杂合型新型错义突变（Ser197Cys）。详细的免疫组织化学研究发现，在上皮下、内皮下和系膜区域的致密沉积物中含有ApoE。串联质谱法也证实肾小球中有大量的ApoE。这些发现提示ApoE Toyonaka与纯合子ApoE2/2可能导致类似膜性肾病的ApoE相关肾小球疾病的新形式。
A 20-year-old female student underwent renal biopsy because of chance proteinuria and hematuria. Histological study revealed a membranous nephropathy-like appearance by light microscopy. But immunoglobulins and complements were negative in the glomerulus by immunofluorescence study. On the other hand, plasma apolipoprotein E (ApoE) concentration was elevated to more than 2 times the normal range, and the phenotype, genotype, and DNA sequence studies of her ApoE showed homozygous ApoE2/2 and a heterozygous novel missense mutation called ApoE Toyonaka (Ser197Cys). Detailed immunohistochemical studies found that the dense deposits in subepithelial, subendothelial, and mesangial areas contained ApoE. Tandem mass spectrometry also proved a large amount of ApoE in the glomerulus. These findings suggest that ApoE Toyonaka with a homozygous ApoE2/2 may cause a new form of ApoE-related glomerular disease resembling membranous nephropathy.