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10.1159/000487919

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suck abstract from ncbi


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pmid29692990
      Case+Rep+Nephrol+Dial 2018 ; 8 (1 ): 45-55
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  • Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2 #MMPMID29692990
  • Fukunaga M ; Nagahama K ; Aoki M ; Shimizu A ; Hara S ; Matsunaga A ; Muso E ; Saito T
  • Case Rep Nephrol Dial 2018[Jan]; 8 (1 ): 45-55 PMID29692990 show ga
  • 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.
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