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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
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.
Aquino-Galvez, A., Pérez-RodrÃguez, M., Camarena, A., Falfan-Valencia, R., Ruiz, V., Montaño, M., Barrera, L., Sada-Ovalle, I., RamÃrez, 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.
Armanios, M. (2012). Telomerase and idiopathic pulmonary fibrosis. Mutation Research, 730(1–2), 52–58.
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.
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.
Geddes, D. M., Webley, M., & Brewerton, D. A. (1977). Alpha-1 antitrypsin phenotypes in fibrosing alveolitis and rheumatoid arthritis. Lancet, 2, 1049–1051.
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.
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.
Kass, D. J., & Kaminski, N. (2011). Evolving genomic approaches to idiopathic pulmonary fibrosis: Moving beyond genes. Clinical and Translational Science, 4, 372–379.
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.
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.
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.
Turton, C. W., Morris, L. M., & Lawler, S. D. (1978). HLA in cryptogenic fibrosing alveolitis. Lancet, 1, 507–508.
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.
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.
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
Yang, I. V. (2012). Epigenomics of idiopathic pulmonary fibrosis. Epigenomics, 4(2), 195–203.
Conflicts of Interest
The authors declare no conflicts of interest in relation to this article.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2013 Springer Science+Business Media Dordrecht
About this chapter
Cite this chapter
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
Download citation
DOI: https://doi.org/10.1007/978-94-007-6627-3_49
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-007-6626-6
Online ISBN: 978-94-007-6627-3
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)