Unusual case of lipoprotein glomerulopathy first diagnosed in a protocol kidney allograft biopsy
Open accessAbstract
Lipoprotein glomerulopathy (LPG) is caused by mutations in APOE, the gene encoding apolipoprotein E. The most commonly encountered mutations are APOE Sendai (p.Arg145Cys), APOE Kyoto (p.Arg25Cys or p.Arg43Cys), and APOE Tokyo (p.Leu141_Lys143del or p.Arg142_Leu144del), whose names correspond to the cities in which the index patients lived.1 Most cases have been reported from East Asian countries; only a few cases from the United States have been described.2 We present a case of LPG that was first diagnosed in a protocol kidney allograft biopsy.
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APOE Kyoto has been distributed worldwide, not only among Asians in China and Japan, but also among Caucasians in Europe and the USA.
“Furthermore, APOE Kyoto has been distributed worldwide, not only among Asians in China and Japan, but also among Caucasians in Europe and the USA [5, 16, 26].”
From Identification of a founder haplotype of <i>APOE Kyoto</i> variant in lipoprotein glomerulopathy (2025) · cites this paper as [5]
The Case Presentation (Follow-up; page unavailable) identifies APOE Kyoto in a European-American patient, and the Introduction says most lipoprotein glomerulopathy cases were reported in East Asia, with a few in the United States. The paper does not report APOE Kyoto in people living in Europe, so it does not establish the full geographic distribution claimed. (LLM, conf=0.85)
Experimental — accuracy not yet measuredOnly 10 cases of LPG (including this one) have been reported from North America, and previously only 5 included gene sequencing.
“Only 10 cases of LPG (including this one) have been reported from North America,2,18,21–26 and previously only 5 of these included gene sequencing: 3 APOE Kyoto,18,23 1 APOE Chicago,22 1 APOE Las Vegas.25”
From Lipoprotein Glomerulopathy, First Case Report from Canada (2022) · cites this paper as [18]
The Introduction (page unavailable) says that only a few LPG cases had been described in the United States, and the Follow-up (page unavailable) reports APOE sequencing in this case. The paper does not give a total of 10 North American cases or say that five previous cases were sequenced; it also does not provide the claimed Kyoto, Chicago, and Las Vegas breakdown. (LLM, conf=0.84)
Experimental — accuracy not yet measuredOther reported ApoE mutations located outside the LDL-receptor binding site may change the spatial conformation and stability of ApoE protein.
“Other mutations locate outside of LRBS, such as ApoE5 (Glu3Lys) [20], ApoE Kyoto (Arg25Cys) [21], ApoE Tsukuba (Arg114 Cys) [22], ApoE Las Vegas (Ala152Asp) [14], ApoE1 (Del 156-173) [23], ApoE Osak/Kurashiki (Arg158 Pro) [24], ApoE Toranomon (Gln187Glu) [25], ApoE Toyonaka (Ser 197Cys) [26], and ApoE Hong Kong (Asp230Tyr) [27]. These mutations may change the spatial conformation and stability of”
From A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports (2022) · cites this paper as [21]
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Cites
Saito, T., Sato, H., Oikawa, S., Kudo, K., Kurihara, I., Nakayama, K., Abe, K., Yoshinaga, K., & Sakaguchi, H. (1993) · American Journal of Nephrology · doi:10.1159/000168591 · Cited by 57 · see citing works
Murano, T., Matsumura, R., Misawa, Y., Ozaki, H., Miyashita, Y., Yoshida, S., Sueioshi, M., Sugiyama, T., & Shirai, K. (2002) · Metabolism · doi:10.1053/meta.2002.29990 · Cited by 27 · see citing works
Flagged first, then by citations
Research works printed but not linked: 7
- [1]Saito T. Matsunaga A. Ito K. Topics in lipoprotein glomerulopathy: an overview Clin Exp Nephrol 18 2014 214 217 24149835
- [2]Rovin B.H. Roncone D. McKinley A. APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy N Engl J Med 357 2007 2522 2524 18077821
- [3]Hu Z. Huang S. Wu Y. Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation Kidney Int 85 2014 416 424 24025644
- [4]Matsunaga A. Furuyama M. Hashimoto T. Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy Clin Exp Nephrol 13 2009 659 662 19603250
- [7]Foster K. Matsunaga A. Matalon R. A rare cause of posttransplantation nephrotic syndrome Am J Kidney Dis 45 2005 1132 1138 15957145
- [8]Miyata T. Sugiyama S. Nangaku M. Apolipoprotein E2/E5 variants in lipoprotein glomerulopathy recurred in transplanted kidney J Am Soc Nephrol 10 1999 1590 1595 10405216
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Cited by
Sorted by citations
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
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
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
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
- Batal, I., Fakhoury, G., Groopman, E., D’Agati, V. D., & Morris, H.
- Affiliations
- Columbia University Irving Medical Center (US)
- Corresponding author
- Batal, Ibrahim
- Venue
- Kidney International Reports
- Publisher
- Elsevier BV
- Published
- 2019-02
- Volume
- 4
- Issue
- 2
- Pages
- 350-354
- ISSN
- 2468-0249 (ISSN-L)
- PMC
- PMC6365308
- OpenAlex
- W2894145310
- Cited by
- 12
- References
- 2
- Citations by year
- 2026: 1 · 2025: 3 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 1 · 2019: 1
- FWCI
- 0.82
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Kidney International Reports (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Nephrology › Chronic Kidney Disease and Diabetes
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- lipoprotein glomerulopathy, apolipoprotein E, kidney allograft biopsy, protocol biopsy, glomerular disease
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