Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy

A 32-year-old man was admitted for the evaluation of proteinuria (5.69 g/day). A light microscopic examination showed markedly dilated glomerular capillary loops with vacuolated areas in many glomeruli, and vacuolated areas were seen on peritubular capillaries in the tubulointerstitium. When electro...

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Autores principales: Tanimizu, Hikaru, Hara, Risa, Sekine, Akinari, Inoue, Noriko, Hasegawa, Eiko, Tanaka, Kiho, Kono, Kei, Kinowaki, Keiichi, Ohashi, Kenichi, Okubo, Minoru, Yamaguchi, Yutaka, Kang, Dedong, Honda, Kazuho, Saito, Takao, Sawa, Naoki, Ubara, Yoshifumi, Hoshino, Junichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465279/
https://www.ncbi.nlm.nih.gov/pubmed/37532513
http://dx.doi.org/10.2169/internalmedicine.0834-22
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author Tanimizu, Hikaru
Hara, Risa
Sekine, Akinari
Inoue, Noriko
Hasegawa, Eiko
Tanaka, Kiho
Kono, Kei
Kinowaki, Keiichi
Ohashi, Kenichi
Okubo, Minoru
Yamaguchi, Yutaka
Kang, Dedong
Honda, Kazuho
Saito, Takao
Sawa, Naoki
Ubara, Yoshifumi
Hoshino, Junichi
author_facet Tanimizu, Hikaru
Hara, Risa
Sekine, Akinari
Inoue, Noriko
Hasegawa, Eiko
Tanaka, Kiho
Kono, Kei
Kinowaki, Keiichi
Ohashi, Kenichi
Okubo, Minoru
Yamaguchi, Yutaka
Kang, Dedong
Honda, Kazuho
Saito, Takao
Sawa, Naoki
Ubara, Yoshifumi
Hoshino, Junichi
author_sort Tanimizu, Hikaru
collection PubMed
description A 32-year-old man was admitted for the evaluation of proteinuria (5.69 g/day). A light microscopic examination showed markedly dilated glomerular capillary loops with vacuolated areas in many glomeruli, and vacuolated areas were seen on peritubular capillaries in the tubulointerstitium. When electron microscopy specimens prepared by pre-fixation with glutaraldehyde and post-fixation with osmium tetroxide were used for oil red staining, the deposition was confirmed on the affected areas. A genetic analysis of apoE showed that the lipoprotein glomerulopathy was due to apoE-Sendai (Arg145Pro, p.R163P) heterozygosity, which was found in not only the patient but also his mother and twin brother.
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spelling pubmed-104652792023-08-30 Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy Tanimizu, Hikaru Hara, Risa Sekine, Akinari Inoue, Noriko Hasegawa, Eiko Tanaka, Kiho Kono, Kei Kinowaki, Keiichi Ohashi, Kenichi Okubo, Minoru Yamaguchi, Yutaka Kang, Dedong Honda, Kazuho Saito, Takao Sawa, Naoki Ubara, Yoshifumi Hoshino, Junichi Intern Med Case Report A 32-year-old man was admitted for the evaluation of proteinuria (5.69 g/day). A light microscopic examination showed markedly dilated glomerular capillary loops with vacuolated areas in many glomeruli, and vacuolated areas were seen on peritubular capillaries in the tubulointerstitium. When electron microscopy specimens prepared by pre-fixation with glutaraldehyde and post-fixation with osmium tetroxide were used for oil red staining, the deposition was confirmed on the affected areas. A genetic analysis of apoE showed that the lipoprotein glomerulopathy was due to apoE-Sendai (Arg145Pro, p.R163P) heterozygosity, which was found in not only the patient but also his mother and twin brother. The Japanese Society of Internal Medicine 2023-08-01 2023-08-01 /pmc/articles/PMC10465279/ /pubmed/37532513 http://dx.doi.org/10.2169/internalmedicine.0834-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Tanimizu, Hikaru
Hara, Risa
Sekine, Akinari
Inoue, Noriko
Hasegawa, Eiko
Tanaka, Kiho
Kono, Kei
Kinowaki, Keiichi
Ohashi, Kenichi
Okubo, Minoru
Yamaguchi, Yutaka
Kang, Dedong
Honda, Kazuho
Saito, Takao
Sawa, Naoki
Ubara, Yoshifumi
Hoshino, Junichi
Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy
title Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy
title_full Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy
title_fullStr Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy
title_full_unstemmed Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy
title_short Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy
title_sort apolipoprotein e-associated lipoprotein glomerulo-tubulopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465279/
https://www.ncbi.nlm.nih.gov/pubmed/37532513
http://dx.doi.org/10.2169/internalmedicine.0834-22
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