A novel apolipoprotein E mutation, ApoE Tsukuba (Arg 114 Cys), in lipoprotein glomerulopathy

Abstract

Lipoprotein glomerulopathy (LPG) is considered a type of renal lipidosis, characterized by the presence of lipoprotein thrombi in markedly dilated capillary lumina of the affected glomeruli [1]. LPG is a rare disease; approximately 65 cases have been reported to date [2]. Patients with LPG exhibit proteinuria and progressive renal dysfunction. In most of the LPG patients, levels of intermediate-density lipoproteins are elevated, resembling type III hyperlipoproteinaemia; moreover, apolipoprotein E (ApoE) levels are also elevated. Recent genetic studies have revealed that several ApoE gene mutations are associated with LPG [3]. In this study, we report a LPG patient with a novel ApoE mutation, without plasma lipid and lipoprotein abnormalities or elevated ApoE level.