A novel variant apolipoprotein E Okayama in a patient with lipoprotein glomerulopathy
Abstract
Lipoprotein glomerulopathy (LPG) is a rare disorder characterized by lipoprotein thrombi in the intraglomerular capillaries and high serum concentrations of apolipoprotein E (apoE). In 1989, Saito et al. [2,3]. Patients with LPG usually present with nephrotic syndrome and a relatively rapid progression to end-stage renal failure. Human apoE is composed of 299 amino acids and mediates tissue uptake of triglyceride-rich lipoproteins through both low-density lipoprotein (LDL) receptor and LDL-receptor-related protein pathways. Genetic variations at the apoE gene locus code for three different major isoforms designated E2, E3 and E4, representing their migration characteristics of isoelectric focusing (IEF). The wild-type allele is apoE3, while apoE2 (Arg158Cys) and apoE4 (Cys112Arg) are less common. ApoE3 and apoE4 are thought to bind equally to the lipoprotein receptors, whereas apoE2 is defective in its lipoprotein receptor binding [4]. Homozygosity for apoE2 (Arg158Cys) results in the development of type III hyperlipoproteinemia [5]. ApoE4 may be a risk factor for atherosclerosis and Alzheimer's disease [6].
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ApoE2 homozygous glomerulopathy showing marked foam cell infiltration has been reported.
“On the other hand, ApoE2 homozygous glomerulopathy showing marked foam cell infiltration has been reported [6].”
From Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka (Ser197Cys) and a Homozygous Apolipoprotein E2/2 (2018) · cites this paper as [6]
Normolipidemic or mildly hyperlipidemic LPG patients also benefit from fibrate treatment.
“Notably, normolipidemic or mildly hyperlipidemic LPG patients also benefit from fibrate treatment17, 22, 23).”
From The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy (2018) · cites this paper as [22]
Worldwide, only 22 cases of LPG including this case have reported the results of more than one native kidney biopsy.
“Worldwide, only 22 cases of LPG including this case have reported the results of more than one native kidney biopsy.14,15,29,32,44–49”
From Lipoprotein Glomerulopathy, First Case Report from Canada (2022) · cites this paper as [47]
Previous case reports found combined treatment with glucocorticoids and immunosuppressants ineffective; intensified treatment with lipid-lowering drugs including fibrates provided clinical and histological relief, with serum cholesterol, triglycerides, and ApoE decreased, and consecutive renal biopsies demonstrated complete disappearance of lipoprotein thrombi.
“Previous case reports that found combined treatment with glucocorticoids and immunosuppressants ineffective used intensified treatment with lipid-lowering drugs (including fibrates) to provide clinical and histological relief for patients. In those cases, serum cholesterol, triglycerides, and ApoE decreased, and consecutive renal biopsies demonstrated complete disappearance of lipoprotein thrombi.”
From A boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review (2025) · cites this paper as [22]
Cites
Lipoprotein Glomerulopathy: Glomerular Lipoprotein Thrombi in a Patient With Hyperlipoproteinemia
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APOE gene variants in primary dyslipidemia
Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.05.007 · Cited by 170 · see citing works
Apolipoprotein E–related glomerular disorders
Saito, T., Matsunaga, A., Fukunaga, M., Nagahama, K., Hara, S., & Muso, E. (2020) · Kidney International · doi:10.1016/j.kint.2019.10.031 · Cited by 77 · see citing works
Self-citationTsimihodimos, V., & Elisaf, M. (2011) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e328345ebb0 · Cited by 33 · see citing works
Wu, H., Yang, Y., & Hu, Z. (2018) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.41996 · Cited by 24 · see citing works
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Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by <i>APOE</i> mutations
Yang, M., Weng, Q., Pan, X., Hussain, H. M. J., Yu, S., Xu, J., Yu, X., Liu, Y., Jin, Y., Zhang, C., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1281 · Cited by 15 · see citing works
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Self-citationImpact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features
Matsunaga, A., & Saito, T. (2025) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.65393 · Cited by 14 · see citing works
Self-citationCommon Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China
Han, J., Pan, Y., Chen, Y., Li, X., Xing, G., Shi, J., Hou, P., Zhang, H., & Wang, H. (2010) · Nephron Clinical Practice · doi:10.1159/000276578 · Cited by 13 · see citing works
Lipoprotein Glomerulopathy, First Case Report from Canada
Ting, J. A., McRae, S. A., Schwartz, D., Barbour, S. J., & Riazy, M. (2022) · International Journal of Nephrology and Renovascular Disease · doi:10.2147/ijnrd.s364890 · Cited by 7 · see citing works
Wang, R., Zhao, C., Chen, W., Liu, Z., & Xie, F. (2022) · Journal of Medical Case Reports · doi:10.1186/s13256-022-03302-0 · Cited by 5 · see citing works
Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup)
Yokochi, A., Matsunaga, A., Kanemoto, K., Tominaga, N., Uda, S., & Saito, T. (2024) · CEN Case Reports · doi:10.1007/s13730-024-00920-z · Cited by 3 · see citing works
Self-citationA boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review
Zhang, S., Fan, L., Li, Z., Liu, T., Jing, X., & Guo, Q. (2025) · Medicine · doi:10.1097/md.0000000000041628 · Cited by 2 · see citing works
Identification of a founder haplotype of <i>APOE Kyoto</i> variant in lipoprotein glomerulopathy
Wu, H., He, Z., Yang, J., Zhou, Y., Yang, Z., Hu, Z., & Yang, Y. (2025) · Clinical Kidney Journal · doi:10.1093/ckj/sfaf234
- Authors
- Kinomura, M., Sugiyama, H., Saito, T., Matsunaga, A., Sada, K.-E., Kanzaki, M., Takazawa, Y., Maeshima, Y., Yanai, H., & Makino, H.
- Affiliations
- Okayama University (JP)
- Venue
- Nephrology Dialysis Transplantation
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-10-30
- Volume
- 23
- Issue
- 2
- Pages
- 751-756
- ISSN
- 0931-0509 (ISSN-L)
- 1460-2385
- OpenAlex
- W2142795230
- Cited by
- 40
- References
- 3
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2022: 4 · 2021: 1 · 2020: 1 · 2019: 4 · 2018: 3 · 2016: 1 · 2015: 2 · 2014: 3 · 2013: 4 · 2012: 2
- FWCI
- 0.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nephrology Dialysis Transplantation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- lipoprotein glomerulopathy, apolipoprotein E, APOE polymorphism, APOE2, APOE3, APOE ε4, nephrotic syndrome, end-stage renal disease, type III hyperlipoproteinemia
- MeSH terms
- Adult, Apolipoproteins E, Female, Genotype, Humans, Nephrosis, Lipoid, Phenotype
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