A novel apolipoprotein E mutation (p.Arg150Cys)in a Chinese patient with lipoprotein glomerulopathy  

作　　者：Ming KO Cai Tao An-An Zhou Yuan Cheng Qi-Jun Wan 

机构地区：[1]Depatment of Nephrology,the First Affiliated Hospital of Shenzhen University,Shenzhen,Guangdong 518035,China [2]Department of Nephrology,Shenzhen Second People's Hospital,Clinical Medicine College of Anhui Medical University,Shenzhen,Guangdong 518035,China [3]Shenzhen Chi Biology Technology Co.,Ud,Shenzhen,Guangdong 518000,China

出　　处：《Chinese Medical Journal》2019年第2期237-239,共3页中华医学杂志（英文版）

摘　　要：To the Editor:Lipoprotein glomerulopathy (LPG) is an uncommon inherited renal disease characterized by lipoprotein thrombi in the markedly dilated capillary lumina of affected glomeruli, high plasma concentrations of apolipoprotein E (apoE), and proteinuria.[1] It mainly affects people of Japanese and Chinese origin, and approximately 117 cases have been reported to date.[2,3] Several genetic studies have demonstrated that APOE gene mutations may lead to the development of LPG;[4,5,6] however, conflicting published evidence has found that some patients with APOE variants were unaffected.[7] Thus, further studies are needed to examine the role of APOE mutations in the pathogenesis of LPG.This study investigated a novel point mutation in the APOE gene in a family with one LPG patient and an asymptomatic carrier of the same APOE variant.

关 键 词：LIPOPROTEIN GLOMERULOPATHY LIPOPROTEIN HOWEVER 

分 类 号：R[医药卫生]