Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits

Recently, several cases of novel apolipoprotein E (apoE)-related glomerular disease known as membranous nephropathy (MN)-like apoE deposition disease with apoE Toyonaka (Ser197Cys) and homozygous apoE2/2 have been reported. However, the clinical and pathological characteristics are uncertain due to the small number of reports. Here, we report an additional case with various clinical and pathological characteristics. A 28-year-old Japanese man with mild proteinuria and hematuria underwent a kidney biopsy. Examination under a light microscope revealed mesangial proliferation, mesangial matrix expansion, and segmental spike lesion. An immunofluorescence study showed no immunoglobulin or complement depositions. In the electron microscopic (EM) examination, massive deposits with various electron densities in the subepithelial, subendothelial, and paramesangial areas were more prominent than those reported in previous cases, which resembled microbubbles or microcysts on higher magnification. The glomerular basement membrane (GBM) structure was partly degenerated by these deposits. Serum triglyceride and cholesterol levels were within the normal range. However, the serum apoE concentration was significantly high, and glomerular apoE accumulation was detected in immunohistochemistry. The DNA sequence revealed apoE Toyonaka and homozygous apoE2/2 similar to that of the previous cases with MN-like apoE deposition disease. MN-like apoE deposition disease can manifest as only mild hematuria and proteinuria without dyslipidemia. Various characteristic deposits associated with GBM degeneration can be observed in the EM study.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits ; volume:12 ; number:2 ; year:2022 ; pages:96-104 ; extent:9
Case reports in nephrology and dialysis ; 12, Heft 2 (2022), 96-104 (gesamt 9)

Creator
Koshino, Akihiko
Takaeda, Chikako
Matsuno, Takahiro
Kitajima, Shinji
Iwata, Yasunori
Sakai, Norihiko
Nagahama, Kiyotaka
Niida, Yo
Saito, Takao
Yokoyama, Hitoshi
Wada, Takashi

DOI
10.1159/000525086
URN
urn:nbn:de:101:1-2022092201035343473222
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:36 AM CEST

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Associated

  • Koshino, Akihiko
  • Takaeda, Chikako
  • Matsuno, Takahiro
  • Kitajima, Shinji
  • Iwata, Yasunori
  • Sakai, Norihiko
  • Nagahama, Kiyotaka
  • Niida, Yo
  • Saito, Takao
  • Yokoyama, Hitoshi
  • Wada, Takashi

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