%0 Journal Article
%T Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2
%A Akira Matsunaga
%A Akira Shimizu
%A Eri Muso
%A Kiyotaka Nagahama
%A Megumu Fukunaga
%A Michiko Aoki
%A Shigeo Hara
%A Takao Saito
%J Archive of "Case Reports in Nephrology and Dialysis".
%D 2018
%R 10.1159/000487919
%X A 20-year-old female student underwent renal biopsy because of chance proteinuria and hematuria. Histological study revealed a membranous nephropathy-like appearance by light microscopy. But immunoglobulins and complements were negative in the glomerulus by immunofluorescence study. On the other hand, plasma apolipoprotein E (ApoE) concentration was elevated to more than 2 times the normal range, and the phenotype, genotype, and DNA sequence studies of her ApoE showed homozygous ApoE2/2 and a heterozygous novel missense mutation called ApoE Toyonaka (Ser197Cys). Detailed immunohistochemical studies found that the dense deposits in subepithelial, subendothelial, and mesangial areas contained ApoE. Tandem mass spectrometry also proved a large amount of ApoE in the glomerulus. These findings suggest that ApoE Toyonaka with a homozygous ApoE2/2 may cause a new form of ApoE-related glomerular disease resembling membranous nephropathy
%K Apolipoprotein E Toyonaka
%K Homozygous apolipoprotein E2/2
%K Apolipoprotein E deposition
%K Membranous nephropathy
%K Lipoprotein glomerulopathy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903162/