ArticleJournal of atherosclerosis and thrombosis2018
The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.
Article in Journal of atherosclerosis and thrombosis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- A case of lipoprotein glomerulopathy in which complete remission was achieved by pemafibrate therapy.CEN case reports · 2026Article
- Article
- Identification of a founder haplotype ofClinical kidney journal · 2025Article
- Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.Journal of atherosclerosis and thrombosis · 2025Review
- Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy.Renal failure · 2024Article
- A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.Journal of medical case reports · 2022Article
- Lipoprotein Glomerulopathy, First Case Report from Canada.International journal of nephrology and renovascular disease · 2022Article
- An Updated Review and Meta Analysis of Lipoprotein Glomerulopathy.Frontiers in medicine · 2022Review
- Apolipoprotein E and Atherosclerosis.Current atherosclerosis reports · 2021Review
- Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice.Journal of translational medicine · 2021Article
- Case Report: A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review.Frontiers in pediatrics · 2021Review
- Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.Molecular genetics & genomic medicine · 2020Article
- A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy.Chinese medical journal · 2019Article
- Thermodynamic destabilization and aggregation propensity as the mechanism behind the association of apoE3 mutants and lipoprotein glomerulopathy.Journal of lipid research · 2018Article
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
aimsLipoprotein glomerulopathy (LPG) is a rare inherited renal disease. Several apolipoprotein E (apoE) mutations have been reported to be related to LPG. Herein, we report a case of a LPG patient with a novel apoE mutation.
methodsA 45-year-old Chinese female was diagnosed as LPG by renal biopsy. APOE gene was sequenced. Clinical and genetic studies were conducted.
resultsThe patient presented with nephrotic syndrome and hypertension. A fasting lipid panel showed mild hyperlipidemia and elevated serum apoE (5.6 mg/dL). Renal biopsy revealed typical LPG lesions with whorled, mesh-like material in dilated glomerular capillary lumens that stained positive for Sudan Ⅲ and apoE. apoE gene analysis revealed a T-to-C point mutation at amino acid 173 that caused a substitution of a proline residue for a leucine residue, which has not been reported previously. We named this mutation apoE Chengdu (c.518T＞C, p.L173P). Two of five of the family members carried this mutation, including the patient's brother who was receiving hemodialysis, and her sister, whose urine protein levels were normal. All mutation carriers were heterozygotes with the apoE genotype ε3/ε3. This mutation was not found among 200 of the local people. Fenofibrate treatment for one year induced clinical improvement.
conclusionsApoE Chengdu (p.L173P) is a novel mutation causing LPG. This case supports the hypothesis that the substitution of proline in or near the LDL receptor-binding area contributes to the development of LPG. The detailed mechanism of action of this variant remains to be elucidated.
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