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2018 ; 8
(1
): 45-55
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gab.com Text
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English Wikipedia
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.