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Cited by 7Renal Diseases and GlomerulopathiesLipid metabolism and disordersLipoproteins and Cardiovascular Health

A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I

Open access
Takasaki, Satoshi, Matsunaga, Akira, Joh, Kensuke, Saito, Takao·2018·CEN Case Reports
DOI 10.1007/s13730-018-0309-2PMC PMC5886940
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Abstract

Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by histopathological features of lipoprotein thrombi in dilated glomerular capillaries and type III like hyperlipoproteinemia with heterozygous mutation of the apolipoprotein (apo) E gene. We herein present the case of a 50-year-old woman with LPG complicated by neurofibromatosis type 1 (NF1). To the best of our knowledge, this is the first report of a case of LPG complicated by NF1. On the other hand, she had not only a heterozygous apoE-Sendai mutation, which is one of the most frequent apoE variants in LPG patients, but also a rare isoform of ApoE5 (Glu3Lys). Although apoE mutation has been recognized as having a principal role in the pathogenesis of LPG, some other factors are assumed to be present in the pathogenesis of LPG, because many asymptomatic carriers of apoE variants are recognized. The coexistence of NF1 or apoE5 (Glu3Lys) allele might play a role as an additional factor in the development of LPG.

AI snapshot

Written from the paper’s full text.

TL;DR

This case report describes a 50-year-old Japanese woman with lipoprotein glomerulopathy (LPG) who was also diagnosed with neurofibromatosis type 1 (NF1), the first reported coexistence of these two conditions. She was a compound heterozygote for the apoE-Sendai mutation and the rare apoE5 (Glu3Lys) isoform, suggesting these may act as additional factors in LPG development.

Key findings

  • The patient, a 50-year-old Japanese woman with childhood-diagnosed NF1, presented with leg edema and proteinuria (urine protein excretion 3.07 g/gCr); laboratory findings included total cholesterol 299 mg/dL, triglycerides 448 mg/dL, HDL cholesterol 39 mg/dL, and serum apoE 18.4 mg/dL (normal 2.7–4.3 mg/dL).
  • Kidney biopsy showed lipoprotein thrombi in 57% of glomeruli (16 of 28), with 7 globally and 8 segmentally sclerosed glomeruli; findings corresponded to LPG.
  • ApoE phenotyping by IEF showed apoE2/5; sequencing identified a heterozygous apoE-Sendai mutation (proline for arginine at codon 145) and heterozygous apoE5 (Glu3Lys), indicating compound heterozygosity with the two variants on separate alleles.
  • After bezafibrate 200 mg/day, urinary protein decreased to almost negative and cholesterol/triglycerides normalized, but serum apoE fell only slightly (11.6 mg/dL) and remained above normal.
  • The authors note only two prior LPG cases with apoE5 (Glu3Lys) have been reported, and no prior cases of NF1 complicated by LPG.

Methods

  • Single case report: clinical history, physical examination, laboratory testing, and renal biopsy with light and electron microscopy.
  • ApoE phenotype analyzed by isoelectric focusing polyacrylamide gel electrophoresis (IEF); APOE genotyping performed by PCR amplification of exons 3 and 4 followed by direct sequencing on a Genetic Analyzer 3130xl.
  • Literature comparison of apoE5 (Glu3Lys)-associated LPG cases presented in Table 1; no experimental or genetic analysis of NF1 was performed.

Limitations

  • The authors state they did not perform experiments with genetically modified mice, so the precise relationship between LPG and NF1 could not be explained.
  • The authors state that NF1 gene analysis was not performed in this patient, and that the mechanisms by which apoE5 (Glu3Lys) or NF1 might contribute to LPG onset remain unelucidated; they call for accumulation of more cases.
  • Evident from the text: this is a single case report, so the proposed contributory roles of apoE5 (Glu3Lys) and NF1 are speculative and cannot establish causation; the authors also note that an asymptomatic carrier (Case 2 in Table 1) with both apoE-Chicago and apoE5 (Glu3Lys) did not develop LPG, indicating the mechanisms may be more intricate.

Model-written summary. Check it against the paper before relying on it.

Integrity signals

Registry

Crossref · 10.1007/s13730-018-0309-2

Cites

20 of 20 references verified0 citation errors · 0 not checkable

Statistics

Nothing to recompute.

Claims the paper makes

9 of 30 cited sources checked · 5 supported · 0 flagged · accuracy not yet measured

  • Interpretationcitation

    NF1 is associated with glomerular diseases.

    “These findings suggest the association of NF1 with glomerular diseases.”
    Quote in the paperSubstantial claim3 of 4 sources checked
    • cites [12] Van-Gils J, Harambat J, Jubert C, et al. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link? Eur J Med Genet. 2014;57:639–42. source
    • cites [13] Hyun JI, Min JW, Lee HM, Kim YK, Choi EJ, Song HC. Minimal change nephrotic syndrome showing complete remission after resection of a neurofibroma in a type I neurofibromatosis patient. Korean J Intern Med. 2017;32:186–9. source
    • cites [14] Afshinnia F, Vega-Warner V, Killen P. Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways. Clin Kidney J. 2013;6:208–10. source
    • cites [15] Koshikawa M, Mukoyama M, Mori K, et al. Role of p38 mitogen-activated protein kinase activation in podocyte injury and proteinuria in experimental nephrotic syndrome. J Am Soc Nephrol. 2005;16:2690–701. source

      The thesis content summary and review summary (p. 2008) discuss p38 MAPK activation in podocyte injury and glomerular disease, not NF1. Searches for NF1, neurofibromin, and neurofibromatosis type 1 found no passage addressing an association with glomerular diseases. (LLM, conf=0.76)

      Experimental — accuracy not yet measured
  • Premisecitation

    Twelve cases of NF1 associated with glomerular disease have been reported.

    “To the best of our knowledge, 12 cases of NF1 associated with glomerular disease have been reported (membranous glomerulopathy, 4 cases; focal segmental glomerulosclerosis (FSGS), 3 cases; IgA nephropathy, 2 cases; minimal-change nephrotic syndrome, 2 cases; and idiopathic nephrotic syndrome, 1 case) [12,13]”
    Quote in the paperNot a substantial claim1 of 2 sources checked
    • cites [12] Van-Gils J, Harambat J, Jubert C, et al. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link? Eur J Med Genet. 2014;57:639–42. source
    • cites [13] Hyun JI, Min JW, Lee HM, Kim YK, Choi EJ, Song HC. Minimal change nephrotic syndrome showing complete remission after resection of a neurofibroma in a type I neurofibromatosis patient. Korean J Intern Med. 2017;32:186–9. source

      In the paper’s main text (page unavailable), the authors say that only a few cases of nephrotic syndrome in NF1 had been reported and describe their own NF1 case with minimal-change disease. The paper does not state that 12 cases of NF1-associated glomerular disease had been reported or give the cited breakdown by diagnosis. (LLM, conf=0.85)

      Experimental — accuracy not yet measured
  • Findingown data

    After bezafibrate treatment, the patient's urinary protein excretion decreased to almost negative.

    “After antihyperlipidemic treatment with bezafibrate at 200 mg/day, urinary protein excretion gradually decreased to almost negative.”
    Quote in the paperNot a substantial claim
  • Findingown data

    Kidney biopsy showed lipoprotein thrombi in 57% of glomeruli.

    “Fifty-seven percent of glomeruli showed marked dilatation of the capillary lumen in the glomeruli filled by a pale-stained substance, which is a characteristic feature of lipoprotein thrombi (Fig. 1b).”
    Quote in the paperSubstantial claim
  • Findingown data

    The patient's serum apoE level was 18.4 mg/dL, above the normal range.

    “The serum apoE level was 18.4 mg/ dL (normal range 2.7-4.3 mg/dL).”
    Quote in the paperSubstantial claim
  • May combine two claims. 12
  • Classified as probably not a substantial claim. 15

  • May combine two claims.

    Premiseown data

    Case 2, the mother of Case 1, had both apoE-Chicago and apoE5 (Glu3Lys) but did not develop LPG; she had apoE4 on the other allele.

    “Case 2 in Table 1, the mother of Case 1, showed both apoE-Chicago and apoE5 (Glu3Lys) as in Case 1, but nevertheless did not develop LPG.She had an isoform apoE4 on the other allele unlike Case 1.”
    Quote in the paperSubstantial claim1 of 1 sources checked
    • cites [5] Kodera H, Mizutani Y, Sugiyama S, et al. A case of lipoprotein glomerulopathy with ApoE Chicago and ApoE (Glu3Lys) treated with fenofibrate. Case Rep Nephrol Dial. 2017;7:112–20. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    Koshikawa et al. demonstrated enhanced phosphorylation of p38 MAPK in glomeruli in models of puromycin aminonucleoside and mouse adriamycin nephropathy.

    “Koshikawa et al. [15] demonstrated enhanced phosphorylation of p38 MAPK in glomeruli in models of puromycin aminonucleoside and mouse adriamycin nephropathy”
    Quote in the paperNot a substantial claim1 of 1 sources checked
    • cites [15] Koshikawa M, Mukoyama M, Mori K, et al. Role of p38 mitogen-activated protein kinase activation in podocyte injury and proteinuria in experimental nephrotic syndrome. J Am Soc Nephrol. 2005;16:2690–701. source

  • May combine two claims.

    Interpretationreasoning

    Decreased neurofibromin activity in NF1 might be associated with LPG and contribute to its development as an additional factor.

    “The decrease in activity of neurofibromin in NF1 might also be associated with LPG which is a glomerular disease, and contribute to the development of LPG as an additional factor.”
    Quote in the paperNot a substantial claim2 of 3 sources checked
    • cites [14] Afshinnia F, Vega-Warner V, Killen P. Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways. Clin Kidney J. 2013;6:208–10. source

      The Discussion (page unavailable) says NF1 can diminish neurofibromin activity and proposes that deficient neurofibromin may contribute to focal segmental glomerulosclerosis (FSGS). It does not address LPG or propose a role for neurofibromin in its development; a search for LPG and lipoprotein glomerulopathy found no matching passage. (LLM, conf=0.88)

      Experimental — accuracy not yet measured
    • cites [15] Koshikawa M, Mukoyama M, Mori K, et al. Role of p38 mitogen-activated protein kinase activation in podocyte injury and proteinuria in experimental nephrotic syndrome. J Am Soc Nephrol. 2005;16:2690–701. source

      The thesis-content summary and examination summary (p. 2008) discuss p38 MAPK activation, podocyte injury, and proteinuria. Searches for neurofibromin, NF1, and lipoprotein glomerulopathy (LPG) found no passage addressing the proposed association or contribution to LPG development. (LLM, conf=0.76)

      Experimental — accuracy not yet measured
    • cites [16] Gödel M, Hartleben B, Herbach N, et al. Role of mTOR in podocyte function and diabetic nephropathy in humans and mice. J Clin Invest. 2011;121:2197–209. source

  • May combine two claims.

    Premisecitation

    Only two cases of LPG with apoE5 (Glu3Lys) have been reported, and they were confirmed to have apoE-Chicago.

    “To the best of our knowledge, only two cases of LPG with apoE5 (Glu3Lys) have been reported [5,6] and these are confirmed to have apoE-Chicago by Kodera [5] (Table 1).”
    Quote in the paperSubstantial claim1 of 2 sources checked
    • cites [5] Kodera H, Mizutani Y, Sugiyama S, et al. A case of lipoprotein glomerulopathy with ApoE Chicago and ApoE (Glu3Lys) treated with fenofibrate. Case Rep Nephrol Dial. 2017;7:112–20. source
    • cites [6] Miyata T, Sugiyama S, Nangaku M, et al. Apolipoprotein E2/E5 variants in lipoprotein glomerulopathy recurred in transplanted kidney. J Am Soc Nephrol. 1999;10:1590–5. source

  • May combine two claims.

    Findingown data

    After bezafibrate treatment, serum cholesterol and triglycerides reduced to normal, but serum apoE decreased to 11.6 mg/dL and remained above normal.

    “Although serum cholesterol and triglyceride levels reduced to within normal ranges, serum apoE level decreased slightly (11.6 mg/dL) and remained above the normal range.”
    Quote in the paperNot a substantial claim

  • Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.

    Findingown data

    The patient had one sister with NF1, but no family history of renal diseases or lipidemia requiring antihyperlipidemic therapy, including in her younger sister with NF1.

    “Of her three sisters, one sister had also been diagnosed with NF1, but there was no family history of renal diseases such as nephrotic syndrome or renal failure, and lipidemia for which the antihyperlipidemic therapy is needed including the younger sister with NF1.”
    Quote in the paperNot a substantial claim

  • Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.

    Findingown data

    Physical examination revealed pitting edema of the lower extremities and numerous subcutaneous nodules.

    “Physical examination revealed no particular abnormalities other than pitting edema of the lower extremities and numerous subcutaneous nodules on the face, chest, abdomen, and back, and extremities (Fig. 1a).”
    Quote in the paperNot a substantial claim

  • May combine two claims.

    Findingown data

    The patient's total cholesterol was 299 mg/dL, triglycerides 448 mg/dL, and HDL cholesterol 39 mg/dL.

    “total cholesterol 299 mg/ dL; triglycerides 448 mg/dL; and high-density lipoprotein cholesterol 39 mg/dL.”
    Quote in the paperNot a substantial claim

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Findingown data

    The patient had proteinuria detected at a routine medical check-up over 10 years earlier.

    “Proteinuria had been detected at a routine medical check-up over 10 years earlier.”
    Quote in the paperNot a substantial claim

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Findingown data

    The patient had been receiving treatment for hypertension for 2 years.

    “had been receiving treatment with hypertension for 2 years.”
    Quote in the paperNot a substantial claim

  • May combine two claims.

    Premisecitation

    Factors other than apoE mutation are involved in the pathogenesis of LPG, because many asymptomatic carriers of apoE variants exist.

    “some other factors are assumed to be present in the pathogenesis of LPG, because many asymptomatic carriers of apoE variants are recognized.”
    • Also stated in: § Discussion · hedged
      “some other factors have been inferred to be present in the pathogenesis of LPG, because many asymptomatic carriers of apoE variants have been recognized [4].”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [4] Saito T, Matsunaga A, Ito K, Nakashima H. Topics in lipoprotein glomerulopathy: an overview. Clin Exp Nephrol. 2014;18:214–7. source

  • Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.

    Premisecitation

    Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by lipoprotein thrombi in dilated glomerular capillaries and type III-like hyperlipoproteinemia with heterozygous APOE mutation.

    “Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by histopathological features of lipoprotein thrombi in dilated glomerular capillaries and type III like hyperlipoproteinemia with heterozygous mutation of the apolipoprotein (apo) E gene.”
    • Also stated in: § Introduction · plain
      “Lipoprotein glomerulopathy (LPG) is a rare inherited disease characterized by histopathological features of lipoprotein thrombi in dilated glomerular capillaries and type III like hyperlipoproteinemia (HLP) with heterozygous mutation of the apolipoprotein E gene (APOE) [1].”
    • Also stated in: § Discussion · plain
      “LPG is an inherited disease first reported by Saito et al. [1], characterized by histopathological features such as dilation of the glomerular capillaries with huge accumulations of lipoprotein-rich material called lipoprotein thrombi.”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [1] Saito T, Sato H, Kudo K, et al. Lipoprotein glomerulopathy: glomerular lipoprotein thrombi in a patient with hyperlipoproteinemia. Am J Kidney Dis. 1989;13:148–53. source

  • Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.

    Premisecitation

    Individuals with apoE5 develop type II HLP and vulnerability to atherosclerosis due to hypercholesterolemia.

    “individuals with apoE5 develop type II HLP [8] and vulnerability to atherosclerosis due to hypercholesterolemia [9].”
    Quote in the paperNot a substantial claim0 of 2 sources checked
    • cites [8] Ordovas JM, Litwack-Klein L, Wilson PW, Schaefer MM, Schaefer EJ. Apolipoprotein E isoform phenotyping methodology and population frequency with identification of ApoE1 and ApoE5 isoforms. J Lipid Res. 1987;28:371–80. source
    • cites [9] Feussner G, Scharnagl H, Scherbaum C, et al. Apolipoprotein E5 (Glu212 ⟶ Lys): increased binding to cell surface proteoglycans but decreased uptake and lysosomal degradation in cultured fibroblasts. J Lipid Res. 1996;37:1632–45. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    The pathogenic mechanisms underlying HLP in patients with apoE5 (Glu3Lys) are presumed to involve downregulation of LDL receptors due to high uptake of lipoproteins containing this apoE mutant.

    “The pathogenic mechanisms underlying HLP in patients with apoE5 (Glu3Lys) are presumed to involve downregulation of low-density lipoprotein (LDL) receptors due to high uptake of lipoproteins containing this apoE mutant [10,11].”
    Quote in the paperNot a substantial claim0 of 2 sources checked
    • cites [10] Dong LM, Yamamura T, Yamamoto A. Enhanced binding activity of an apolipoprotein E mutant, APO E5, to LDL receptors on human fibroblasts. Biochem Biophys Res Commun. 1990;168:409–14. source
    • cites [11] Wardell MR, Rall SC Jr, Schaefer EJ, Kane JP, Weisgraber KH. Two apolipoprotein E5 variants illustrate the importance of the position of additional positive charge on receptor-binding activity. J Lipid Res. 1991;32:521–8. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    Sam et al. demonstrated enhanced binding of apoE-Chicago to glomerular capillaries in a patient with LPG.

    “Sam et al. [7] demonstrated enhanced binding of apoE-Chicago to glomerular capillaries in a patient with LPG.”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [7] Sam R, Wu H, Yue L, et al. Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding. Am J Kidney Dis. 2006;47:539–48. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    ApoE-Sendai corresponds to apoE phenotype E2 on IEF.

    “Although apoE-Chicago [7] and apoE-Sendai [2] are the representative mutations in LPG indicating phenotype E2 on IEF”
    Quote in the paperNot a substantial claim0 of 2 sources checked
    • cites [2] Oikawa S, Matsunaga A, Saito T, et al. Apolipoprotein E Sendai (arginine 145 ⟶ proline): a new variant associated with lipoprotein glomerulopathy. J Am Soc Nephrol. 1997;8:820–3. source
    • cites [7] Sam R, Wu H, Yue L, et al. Lipoprotein glomerulopathy: a new apolipoprotein E mutation with enhanced glomerular binding. Am J Kidney Dis. 2006;47:539–48. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    Fifteen novel apoE variants associated with LPG have been identified.

    “Fifteen novel apoE variants associated with LPG have been identified so far [4].”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [4] Saito T, Matsunaga A, Ito K, Nakashima H. Topics in lipoprotein glomerulopathy: an overview. Clin Exp Nephrol. 2014;18:214–7. source

  • May combine two claims.

    Premisecitation

    The NF1 gene maps to the long arm of chromosome 17, and a few cases with NF1 carry mutation in chromosome 19q13.2.

    “While the NF1 gene, which is the causative disease gene in most NF1 cases, maps to the long arm of chromosome 17, a few cases with NF1 carry mutation in chromosome 19q13.2[18].”
    Quote in the paperSubstantial claim0 of 1 sources checked
    • cites [18] Koga T, Iwasaki H, Ishiguro M, Matsuzaki A, Kikuchi M. Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis. Cancer Genet Cytogenet. 2002;15:113–20. source

  • May combine two claims.

    Interpretationreasoning

    The coexistence of NF1 or the apoE5 (Glu3Lys) allele might play a role as an additional factor in the development of LPG.

    “The coexistence of NF1 or apoE5 (Glu3Lys) allele might play a role as an additional factor in the development of LPG.”
    • Also stated in: § Discussion · hedged
      “It is possible that the existence of the apoE5 (Glu3Lys) allele or NF1 may play a pivotal role as an additional factor in the development of LPG induced by apoE-Sendai, but the precise mechanisms have not been elucidated.”
    Quote in the paperSubstantial claim

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    The prevalence of apoE5 is 0.2% (E3 78.6%, E4 13.5%, E2 7.5%).

    “The prevalence of apoE5 has been reported as 0.2% (E3, 78.6%; E4, 13.5%; E2, 7.5%)”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [8] Ordovas JM, Litwack-Klein L, Wilson PW, Schaefer MM, Schaefer EJ. Apolipoprotein E isoform phenotyping methodology and population frequency with identification of ApoE1 and ApoE5 isoforms. J Lipid Res. 1987;28:371–80. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Interpretationcitation

    The coexistence of LPG and NF1 in this patient might be related to mutations at close positions on chromosome 19q13.2.

    “Although we have not performed gene analysis regarding NF1 in our patient, the coexistence of LPG and NF1 might be related to the occurrence of mutations at close position.”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [18] Koga T, Iwasaki H, Ishiguro M, Matsuzaki A, Kikuchi M. Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis. Cancer Genet Cytogenet. 2002;15:113–20. source
    • Rests on an assumption: APOE is located on chromosome 19q13.2.

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    ApoE-Sendai is one of the most frequent apoE variants in LPG patients.

    “which is one of the most frequent apoE variants in LPG patients”
    • Also stated in: § Abstract · plain
      “one of the most frequent apoE variants in LPG patients”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [2] Oikawa S, Matsunaga A, Saito T, et al. Apolipoprotein E Sendai (arginine 145 ⟶ proline): a new variant associated with lipoprotein glomerulopathy. J Am Soc Nephrol. 1997;8:820–3. source

  • Probably not a substantial claim: may not pass S3 (load-bearing).

    Premisecitation

    Gödel et al. suggested that mTOR signaling plays a role in podocyte homeostasis.

    “Gödel et al. [16] suggested that mTOR signaling plays a role in podocyte homeostasis.”
    Quote in the paperNot a substantial claim0 of 1 sources checked
    • cites [16] Gödel M, Hartleben B, Herbach N, et al. Role of mTOR in podocyte function and diabetic nephropathy in humans and mice. J Clin Invest. 2011;121:2197–209. source
23 of 23

  • The paper relies on this without support.

    No cases of LPG complicated by NF1 had been reported before this case.

    “No cases of LPG with NF1 have been reported previously.”
    “while no reports have described NF1 complicated by LPG.”

  • The paper relies on this without support.

    APOE is located on chromosome 19q13.2.

    “On the other hand, APOE is also located on chromosome 19q13.2.”
2 of 2

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Nephropathy associated with apoE5 (Glu3Lys) alone has not yet been reported.

    “Nephropathy associated with apoE5 (Glu3Lys) alone has not yet been reported.”

    From Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys) (2018) · cites this paper as [5]

    The Discussion (page unavailable) says that the previously reported cases of lipoprotein glomerulopathy with apoE5 (Glu3Lys) also had apoE-Chicago, while the present case also had apoE-Sendai. This supports the claim for lipoprotein glomerulopathy, but the paper does not establish the broader assertion that no nephropathy associated with apoE5 alone has been reported. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • A few cases of LPG associated with apoE5 (Glu3Lys) have been reported.

    “A few cases of LPG associated with apoE5 (Glu3Lys) have been reported”

    From Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys) (2018) · cites this paper as [5]

  • The specific role of apoE5 (Glu3Lys) in LPG is unknown.

    “the specific role of apoE (Glu3Lys) is unknown.”

    From Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys) (2018) · cites this paper as [5]

  • In reported LPG cases with apoE5, other LPG-specific apoE variants (apoE-Chicago, apoE-Sendai) were also detected.

    “but apoE variants specific to LPG, e.g., apoE-Chicago [4] and apoE-Sendai [5], were also detected in these cases”

    From Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys) (2018) · cites this paper as [5]

  • Other 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 [20]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

Each contradiction between two passages listed here was confirmed by an independent check.

  • Wild-type amino acid at codon 3 is named inconsistently

    Minor

    The caption calls the wild-type amino acid glutamine, whereas the stated Glu3Lys substitution identifies it as Glu (glutamic acid), not glutamine.

  • Patient's age differs between the case report and Table 1

    Minor

    The case report describes the patient as 50 years old, but the table lists the present case as 52 years old.

2 of 2

Cites

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Authors
Takasaki, S., Matsunaga, A., Joh, K., & Saito, T.
Affiliations
  • Yamagata Saisei Hospital (JP)
  • Fukuoka University (JP)
  • Tohoku University (JP)
Corresponding author
Takasaki, Satoshi
ORCID
Venue
CEN Case Reports
Publisher
Springer Science and Business Media LLC
Published
2018-01-22
Volume
7
Issue
1
Pages
127-131
ISSN
2192-4449 (ISSN-L)
DOI
10.1007/s13730-018-0309-2
PMC
PMC5886940
OpenAlex
W2784694135
Cited by
7
References
19
Citations by year
2024: 1 · 2022: 2 · 2021: 1 · 2019: 2 · 2018: 1
FWCI
0.82
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (unspecified)
Locations
  • CEN Case Reports (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
Japan Society for the Promotion of Science (16K08955)
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, neurofibromatosis type 1, apolipoprotein E, type III hyperlipoproteinemia, glomerular capillaries, pathogenesis

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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Claims read by deepseek-v4.1-flash under definition version 3 (extract-v3) on 2026-10-31.

Classified by jev-1.13-20260917 (gold-guideline-v0.2) on 2026-10-31.

Cited sources are checked by gpt-6-sol.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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