脂蛋白肾病六例临床和病理观察  

Clinieopathologic features of lipoprotein glomerulopatby： observation of 6 cases

作　　者：邹古明[1] 卓莉[1] 谭敏[1] 李文歌[1] Zou Guming;Zhuo Li;Tan Min;Li Wenge(Division of Nephrology,China-Japan Friendship Hospital,Beifing 100029,China)

机构地区：[1]中日友好医院肾病科,北京100029

出　　处：《中华医学杂志》2018年第36期2910-2913,共4页National Medical Journal of China

摘　　要：目的观察和探讨脂蛋白肾病的临床和病理特点。方法回顾性分析2008年1月至2018年1月中日友好医院肾病科6例临床和病理资料完整的脂蛋白肾病患者资料，其中男5例，女1例，年龄11-53岁，平均27．5岁。肾活检标本经光学显微镜、特殊染色、透射电子显微镜观察，通过基因分析及追踪随访，总结和分析该病的诊断要点和预后。结果6例脂蛋白肾病均表现为大量蛋白尿和肾病综合征，血低密度和极低密度脂蛋白升高，载脂蛋白E升高，其中3例有家族史，2例发展为尿毒症或死亡。肾活检显示肾小球毛细血管腔和肾小管上皮细胞内脂蛋白沉积，脂蛋白栓子样物质形成。其中2例载脂蛋白E基因检测发现162G〉C及455G〉C基因突变。结论脂蛋白肾病属于常染色体隐性遗传载脂蛋白E基因突变导致的肾脏疾病。临床表现为大量蛋白尿和肾病综合征，预后差，肾活检病理检查是确诊的方法，肾小球脂蛋白栓子样物质是其特殊的病变特征。Objective To investigate the clinicopathologic features of lipoprotein glomerulopathy （LPG）. Methods A total of 6 cases （5 males and 1 female, with a mean age of 27.5 years and age range of 11 -53 years ） of lipoprotein glomerulopathy with complete clinicopathologic data were enrolled. Except for light microscope, immunofluorescence and electron microscopic examination, renal biopsy tissues were checked by oil red 0 staining. The gene map of apolipoprotein E （ApoE） of 2 cases were analyzed. Results All 6 cases presented with heavy proteinuria or nephrotic syndrome, and high level of low-density lipoprotein （LDL）, very low-density lipoprotein （vLDL）, ApoE. Family history of LPG was found in 3 cases, and 2 patients progressed to uremia, or even to death. Pathologic features showed that lipoprotein deposited in glomerulus capillary lumen and renal tubular epithelial cells. Gone analysis demonstrated that 2 cases expressed abnormal ApoE gene （ 162G 〉 C and 455G 〉 C）. Conclusions Lipoprotein glomerulopatily is autosomal-recessive disease with mutation of ApoE. Common clinical manifestations of LPG are heavy proteinuria or nephrotic syndrome, with a poor prognosis. Renal biopsy pathologic diagnosis can confirm this kidney disease. Emboli of lipoprotein being observed in glomcrulus capillary lumen is the pathological feature of LPG.

关 键 词：肾病 脂性 体征和症状 活组织检查 病理学 临床 

分 类 号：R692[医药卫生—泌尿科学]