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Familial Idiopathic Pulmonary Fibrosis

Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 788)

Abstract

Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease of unknown etiology, with an appearance of usual interstitial pneumonia on lung biopsy. To-date, about a 100 families diagnosed with IPF have been described. Familial IPF is defined as histologically confirmed IPF occurring in two or more members of a family. Familial pulmonary fibrosis is hereditary, most probably as a feature which is autosomal dominant with variable penetration. Since 2002, we have been following two families with IPF, referred to in the present article as A and B. The patients in Family A included brother, sister, and sister’s daughter. We examined two closest relatives of the patients in family A who are healthy. The patients in Family B included father and his two children. In Family B, we examined six other closest relatives, all of whom proved healthy. In all cases, IPF diagnosis was confirmed histologically. We examined human leukocyte antigen (HLA) alleles in both families, including antigens Class I (locus A, B, and C) and Class II (locus DR). On the basis of the results obtained it is impossible to determine the relation between major histocompatibility complex (MHC) polymorphisms and the incidence of the disease.

Keywords

  • Familial idiopathic pulmonary fibrosis
  • Human leukocyte antigen
  • Interstitial lung disease
  • Histocompatibility complex
  • Gene polymorphism

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References

  • American Thoracic Society. (2000). American Thoracic Society: Idiopathic pulmonary fibrosis: Diagnosis and treatment. International consensus statement. American Journal of Respiratory and Critical Care Medicine, 161, 2646–2664.

    Google Scholar 

  • Aquino-Galvez, A., Pérez-Rodríguez, M., Camarena, A., Falfan-Valencia, R., Ruiz, V., Montaño, M., Barrera, L., Sada-Ovalle, I., Ramírez, R., Granados, J., Pardo, A., & Selman, M. (2009). MICA polymorphisms and decreased expression of the MICA receptor NKG2D contribute to idiopathic pulmonary fibrosis susceptibility. Human Genetics, 125, 639–648.

    PubMed  CrossRef  CAS  Google Scholar 

  • Armanios, M. (2012). Telomerase and idiopathic pulmonary fibrosis. Mutation Research, 730(1–2), 52–58.

    PubMed  CrossRef  CAS  Google Scholar 

  • Barbas-Filho, J. V., Ferreira, M. A., Sesso, A., Kairalla, R. A., Carvalho, C. R., & Capelozzi, V. L. (2001). Evidence of type II pneumocyte apoptosis in the pathogenesis of IPF/usual interstitial pneumonia (UIP). Journal of Clinical Pathology, 54, 132–138.

    PubMed  CrossRef  CAS  Google Scholar 

  • Falfán-Valencia, R., Camarena, A., Juarey, A., Juarez, A., Becerril, C., Cisneros, M. M., Mendoza, F., Pardo, J. G., & Selman, M. (2005). Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis. Human Genetics, 118, 235–244.

    PubMed  CrossRef  Google Scholar 

  • Geddes, D. M., Webley, M., & Brewerton, D. A. (1977). Alpha-1 antitrypsin phenotypes in fibrosing alveolitis and rheumatoid arthritis. Lancet, 2, 1049–1051.

    PubMed  CrossRef  CAS  Google Scholar 

  • Hodgson, U., Tukiainen, P., & Laitinen, T. (2005). The polymorphism C5507G of complement receptor 1 does not explain idiopathic pulmonary fibrosis among the Finns. Respiratory Medicine, 99, 265–267.

    PubMed  CrossRef  Google Scholar 

  • Hubbard, R., Lewis, S., Richards, K., Johnston, I., & Britton, J. (1996). Occupational exposure to metal or wood dust and aetiology of cryptogenic fibrosing alveolitis. Lancet, 347, 284–289.

    PubMed  CrossRef  CAS  Google Scholar 

  • Kass, D. J., & Kaminski, N. (2011). Evolving genomic approaches to idiopathic pulmonary fibrosis: Moving beyond genes. Clinical and Translational Science, 4, 372–379.

    PubMed  CrossRef  CAS  Google Scholar 

  • Libby, D. M., Gibofsky, A., Fotini, M., Waters, S. J., & Smith, J. P. (1983). Immunogenetic and clinical findings in Idiopathic pulmonary fibrosis. Association with the B-cell alloantigen HLA-DR2. American Review of Respiratory Disease, 127, 618–622.

    PubMed  CAS  Google Scholar 

  • Marshall, R. P., Puddicombe, A., Cookson, W. O., & Laurent, G. J. (2000). Adult familial cryptogenic fibrosis alveolitis in the United Kingdom. Thorax, 55, 143–146.

    PubMed  CrossRef  CAS  Google Scholar 

  • Pantelidis, P., Fanning, G. C., Wells, A. U., Welsh, K. I., & du Bois, R. M. (2001). Analysis of tumor necrosis factor-a, lymphotoxin-a, tumor necrosis factor receptor II, and interleukin-6 polymorphisms in patients with idiopathic pulmonary fibrosis. American Journal of Respiratory and Critical Care Medicine, 163, 1432–1436.

    PubMed  CrossRef  CAS  Google Scholar 

  • Turton, C. W., Morris, L. M., & Lawler, S. D. (1978). HLA in cryptogenic fibrosing alveolitis. Lancet, 1, 507–508.

    PubMed  CrossRef  CAS  Google Scholar 

  • Wahidi, M. M., Speer, M. C., Steele, M. P., Brown, K. K., Schwartz, M. I., & Schwartz, D. A. (2002). Familial pulmonary fibrosis in the United States. Chest, 121(Suppl 3), 30S.

    PubMed  CrossRef  Google Scholar 

  • Whyte, M., Hubbard, R., Meliconi, R., Whidborne, M., Eaton, V., Bingle, C., Timms, J., Duff, G., Facchini, A., Pacilli, A., Fabbri, M., Hall, I., Britton, J., Johnston, I., & Di Giovine, F. (2000). Increased risk of fibrosing alveolitis associated with interleukin-1 receptor antagonist and tumor necrosis factor-a gene polymorphisms. American Journal of Respiratory and Critical Care Medicine, 162, 755–758.

    PubMed  CrossRef  CAS  Google Scholar 

  • Xue, J., Gochuico, B. R., Alawad, A. S., Feghali-Bostwick, C. A., Noth, I., Nathan, S. D., Rosen, G. D., Rosas, I. O., Dacic, S., Ocak, I., Fuhrman, C. R., Cuenco, K. T., Smith, M. A., Jacobs, S. S., Zeevi, A., Morel, P. A., Kaminski, N., Sciurba, F. C., Zhang, Y., & Duncan, S. R. (2011). The HLA Class II Allele DRB1*1501 is over-represented in patients with idiopathic pulmonary fibrosis. PLoS ONE, 6(2), e14715. doi: 10.1371/journal.pone.0014715

    CAS  Google Scholar 

  • Yang, I. V. (2012). Epigenomics of idiopathic pulmonary fibrosis. Epigenomics, 4(2), 195–203.

    PubMed  CrossRef  CAS  Google Scholar 

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The authors declare no conflicts of interest in relation to this article.

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Correspondence to K. Wytrychowski .

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Wytrychowski, K., Hans-Wytrychowska, A., Nowakowska, B. (2013). Familial Idiopathic Pulmonary Fibrosis. In: Pokorski, M. (eds) Neurobiology of Respiration. Advances in Experimental Medicine and Biology, vol 788. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-6627-3_49

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