载脂蛋白E基因突变导致的儿童脂蛋白肾病2例  

Lipoprotein glomerulopathy caused by mutation of apolipoprotein E gene in children: a report of two cases

作　　者：魏雅琴 姚俊 张沛 高春林 何旭[2] 贾丽丽 李晓洁 夏正坤 Wei Yaqin;Yao Jun;Zhang Pei;Gao Chunlin;He Xu;Jia Lili;Li Xiaojie;Xia Zhengkun(Department of Pediatrics,Jinling Hospital,the First School of Clinical Medicine,Southern Medical University,Nanjing 210002,China;Department of Pediatrics,Jinling Hospital,Nanjing 210002,China;Department of Pediatrics,Jingling Hospital,Nanjing University School of Medicine,Nanjing 210002,China;Department of Pediatrics,Jinling Hospital,Nanjing Medical University,Nanjing 210002,China)

机构地区：[1]南方医科大学第一临床医学院南京临床医学院(东部战区总医院)儿科,南京210002 [2]东部战区总医院儿科,南京210002 [3]南京大学医学院附属金陵医院(东部战区总医院)儿科,南京210002 [4]南京医科大学附属金陵临床医学院(东部战区总医院)儿科,南京210002

出　　处：《中华肾脏病杂志》2023年第3期215-219,共5页Chinese Journal of Nephrology

基　　金：江苏省儿科医学创新团队项目(CXTDA2017022);江苏省自然科学基金—青年基金项目(BK20190251)。

摘　　要：该文报道2例儿童脂蛋白肾病(lipoprotein glomerulopathy, LPG)病例, 2例患儿Sanger测序结果均提示载脂蛋白E基因突变[分别为c.127(exon3)C>T, p.R43C(p.Arg43Cys)、c.494(exon4)G>C, p.R165P(p.Arg165Pro)], 肾脏病理均可见肾小球毛细血管袢内大量脂蛋白栓子形成, LPG诊断成立。LPG起病无特异性临床表现, 容易被漏诊误诊, 肾活检病理检查为确诊手段, 糖皮质激素治疗无效, 需接受长期降脂治疗。The paper reports two cases of lipoprotein glomerulopathy(LPG)in children.The Sanger sequencing results in 2 cases indicated apolipoprotein E gene mutation[c.127(exon3)C>T,p.R43C(p.Arg43Cys);c.494(exon4)G>C,p.R165P(p.Arg165Pro),respectively].Renal pathological presentation of two children showed that a large number of lipoprotein emboli were formed in the glomerular capillary loop,and the diagnosis of LPG was confirmed.The onset of LPG has no specific clinical manifestation,which is easy to be undiagnosed or misdiagnosed.Renal biopsy is a diagnostic means,glucocorticoid treatment is ineffective,and long-term lipid-lowering treatment may be required for LPG.

关 键 词：载脂蛋白E类 突变 儿童 脂蛋白肾病 

分 类 号：R726.9[医药卫生—儿科]