Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review

Li Chao; Wen Yubing; Li Hang; Li Mingxi; Li Xuewang; Li Xuemei

doi:10.24920/31802

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Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review

Chinese Medicine Science Journal Vol. 33, Issue 1, Pages: 60-63(2018)

CASE REPORT | Updated：2024-04-10

- Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review
- Affiliations：
  
  中国医学科学院北京协和医学院,北京协和医院肾内科,100730 北京
- Author bio：
- Funds：
- DOI：10.24920/31802
  CLC：
- Received：11 July 2017，
  
  Published Online：01 April 2018，
  
  Published：01 April 2018
- Accepted：
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Li Chao, Wen Yubing, Li Hang, et al. Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review[J]. Chinese medicine science journal, 2018, 33(1): 60-63.
DOI：

Li Chao, Wen Yubing, Li Hang, et al. Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review[J]. Chinese medicine science journal, 2018, 33(1): 60-63. DOI： 10.24920/31802.

摘要

纤维连接蛋白肾小球病是一种罕见的常染色体显性遗传的大量纤维连接蛋白沉积的肾小球病。我们诊断了1例纤维连接蛋白肾小球病的29岁女性患者

临床表现为肾病综合征。对纤维连接蛋白的编码基因FN1基因测序显示存在Y973C杂合突变

并且并未发现其父母携带此突变。随访一年后患者肾功能稳定

但肾病范围蛋白尿持续存在。

Abstract

Fibronectin glomerulopathy is a rare autosomal dominant inherited glomerular disease associated with massive deposition of fibronectin. We recently diagnosed fibronectin glomerulopathy in a 29-year-old woman presenting nephrotic syndrome. Genetic analysis of fibronectin 1 gene showed heterozygosity for the Y973C mutation. However

this mutation was not found in her parents. She had stable renal function but persistent nephrotic proteinuria after one-year follow-up.

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references

Zhao Z , Wu F , Ding S , et al . Label-free quantitative proteomic analysis reveals potential biomarkers and pathways in renal cell carcinoma . Tumour Biol , 2015 ; 36 ( 2 ): 939 - 51 . doi: 10.1007/s13277-014-2694-2 https://doi.org/10.1007/s13277-014-2694-2 . DOI: 10.1007/s13277-014-2694-2 http://doi.org/10.1007/s13277-014-2694-2 http://link.springer.com/10.1007/s13277-014-2694-2 http://link.springer.com/10.1007/s13277-014-2694-2

Strom EH , Banfi G , Krapf R , et al . Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease . Kidney Int , 1995 ; 48 ( 1 ): 163 - 70 . DOI: 10.1007/BF00866788 http://doi.org/10.1007/BF00866788 http://linkinghub.elsevier.com/retrieve/pii/S0085253815590522 http://linkinghub.elsevier.com/retrieve/pii/S0085253815590522

Li Y , Zhou K , Zhang Z , et al . Label-free quantitative proteomic analysis reveals dysfunction of complement pathway in peripheral blood of schizophrenia patients: evidence for the immune hypothesis of schizophrenia . Mol Biosyst , 2012 ; 8 ( 10 ): 2664 - 71 . doi: 10.1039/c2mb25158b https://doi.org/10.1039/c2mb25158b . DOI: 10.1039/c2mb25158b http://doi.org/10.1039/c2mb25158b http://xlink.rsc.org/?DOI=c2mb25158b http://xlink.rsc.org/?DOI=c2mb25158b

Gemperle O , Neuweiler J , Reutter FW , et al . Familial glomerulopathy with giant fibrillar (fibronectin-positive) deposits: 15-year follow-up in a large kindred . Am J Kidney Dis , 1996 ; 28 ( 5 ): 668 - 75 . DOI: 10.1016/S0272-6386(96)90247-4 http://doi.org/10.1016/S0272-6386(96)90247-4 http://linkinghub.elsevier.com/retrieve/pii/S0272638696902474 http://linkinghub.elsevier.com/retrieve/pii/S0272638696902474

Hildebrandt F , Strahm B , Prochoroff A , et al . Glomerulopathy associated with predominant fibronectin deposits: exclusion of the genes for fibronectin, villin and desmin as causative genes . Am J Med Genet , 1996 ; 63 ( 1 ): 323 - 7 . doi: 10.1002/(SICI)1096-8628(19960503)63:1<323::AID-AJMG54>3.0.CO https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<323::AID-AJMG54>3.0.CO ;2-M. DOI: 10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-M http://doi.org/10.1002/(SICI)1096-8628(19960503)63:13.0.CO;2-M http://doi.wiley.com/10.1002/%28ISSN%291096-8628 http://doi.wiley.com/10.1002/%28ISSN%291096-8628

Castelletti F , Donadelli R , Banterla F , et al . Mutations in FN1 cause glomerulopathy with fibronectin deposits . Proc Natl Acad Sci U S A , 2008 ; 105 ( 7 ): 2538 - 43 . doi: 10.1073/pnas.0707730105 https://doi.org/10.1073/pnas.0707730105 . DOI: 10.1073/pnas.0707730105 http://doi.org/10.1073/pnas.0707730105 http://www.pnas.org/cgi/doi/10.1073/pnas.0707730105 http://www.pnas.org/cgi/doi/10.1073/pnas.0707730105

Ishimoto I , Sohara E , Ito E , et al . Fibronectin glomerulopathy . Clin Kidney J , 2013 ; 6 ( 5 ): 513 - 5 . doi: 10.1093/ckj/sft097 https://doi.org/10.1093/ckj/sft097 . DOI: 10.1093/ckj/sft097 http://doi.org/10.1093/ckj/sft097 https://academic.oup.com/ckj/article-lookup/doi/10.1093/ckj/sft097 https://academic.oup.com/ckj/article-lookup/doi/10.1093/ckj/sft097

Chen H , Bao H , Xu F , et al . Clinical and morphological features of fibronectin glomerulopathy: a report of ten patients from a single institution . Clin Nephrol , 2015 ; 83 ( 2 ): 93 - 9 . DOI: 10.5414/CN108288 http://doi.org/10.5414/CN108288 http://www.ncbi.nlm.nih.gov/pubmed/25948485 http://www.ncbi.nlm.nih.gov/pubmed/25948485

Quecine MC , Leite TF , Bini AP , et al . Label-free quantitative proteomic analysis of puccinia psidii uredospores reveals differences of fungal populations infecting eucalyptus and guava . PLoS One , 2016 ; 11 ( 1 ): e0145343 . doi: 10.1371/journal.pone.0145343 https://doi.org/10.1371/journal.pone.0145343 . DOI: 10.1371/journal.pone.0145343 http://doi.org/10.1371/journal.pone.0145343 http://dx.plos.org/10.1371/journal.pone.0145343 http://dx.plos.org/10.1371/journal.pone.0145343

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