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 ...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.展开更多
文摘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.
