Idiopathic pulmonary fibrosis: the need for early diagnosis
Tóm tắt
Idiopathic pulmonary fibrosis (IPF), a chronic fibrosing lung disease of a progressive nature and unknown etiology, has the largest epidemiological impact and the worst prognosis among the idiopathic interstitial pneumonias (IIP). Despite the progress in pathogenetic knowledge, many aspects are still dubious, in particular the biomolecular mechanisms activated in the early stages of the disease. Early diagnosis is desirable not only to better define aspects of the natural history of the disease, but also to customize treatment protocols. An early diagnosis of IPF should necessarily be based on the ability to highlight a number of features drawn not only from a careful composition of specific anamnestic data with clinical, functional and radiological parameters, but also from biological markers that, in a proper context, can provide guidance and confirm a clinical-anamnestic suspicion. The identification of specific biomarkers for IPF is a modern and attractive look for the potential clinical implications in terms of diagnosis, prediction of disease progression and prognosis. Biomolecular investigations on IPF were performed selectively on tissue samples, bronchoalveolar lavage (BAL), or blood: nowadays the “multi-omic” approach may allow studying individual constitutional profiles resorting to a series of biomolecular disciplines, the so-called “omics”, which focuses on responses of the entire genomic complex, in line with the current trend to quantitatively analyze the interactions of all components of a biological system. Such refined investigations are an essential base for research now, but they might become a routine in the near future, allowing a more precise classification of patients suffering from a disease of unclear taxonomy.
Tài liệu tham khảo
Raghu G: An Official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med. 2011, 183: 788-824. 10.1164/rccm.2009-040GL.
Navaratnam V, Fleming KM, West J, Smith CJP, Jenkins RG, Fogarty A, Hubbard RB: The rising incidence of idiopathic pulmonary fibrosis in the UK. Thorax. 2011, 66: 462-467. 10.1136/thx.2010.148031.
Raghu G, Weycker D, Edelsberg J, Bradford WZ, Oster G: Incidence and prevalence of Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2006, 174: 810-816. 10.1164/rccm.200602-163OC.
Frankel SK, Schwarz MI: Update in idiopathic pulmonary fibrosis. Curr Opin Pulm Med. 2009, 15: 463-469. 10.1097/MCP.0b013e32832ea4b3.
Vancheri C, Failla M, Crimi N, Raghu G: Idiopathic pulmonary fibrosis: a disease with similarities and links to cancer biology. Eur Respir J. 2010, 35: 496-504. 10.1183/09031936.00077309.
King TE, Pardo A, Selman M: Idiopathic Pulmonary Fibrosis. Lancet. 2011, 378: 1949-1961. 10.1016/S0140-6736(11)60052-4.
Richeldi L: Assessing the treatment effect from multiple trials in idiopathic pulmonary fibrosis. Eur Respir Rev. 2012, 21: 147-151. 10.1183/09059180.00000912.
Cottin V: Changing the idiopathic pulmonary fibrosis treatment approach and improving patient outcome. Eur Respir Rev. 2012, 21: 161-167. 10.1183/09059180.00001112.
Noble PW, Albera C, Bradford WZ, Costabel U, Glassberg MK, Kardatzke D, King TE, Lancaster L, Sahn SA, Szwarcberg J, Valeyre D, Du Bois R, CAPACITY Study Group: Pirfenidone in patients with idiopathic pulmonary fibrosis (CAPACITY): two randomised trials. Lancet. 2011, 377: 1760-1769. 10.1016/S0140-6736(11)60405-4.
Papiris SA, Kagouridis K, Kolilekas L, Triantafillidou C, Tsangaris I, Manali ED: Pirfenidone treatment in idiopathic pulmonary fibrosis: too much of a great expectation?. Eur Respir J. 2012, 40: 794-795. 10.1183/09031936.00114311.
Albera C: Challenges in idiopathic pulmonary fibrosis trials: the point on end-points. Eur Respir Rev. 2011, 20: 195-200. 10.1183/09059180.00001711.
Martinez FJ, Safrin S, Weycker D, Starko KM, Bradford WZ, King TE, Flaherty KL, Schwartz DA, Noble PW, Raghu G, Brown KK, For the IPF Study Group: The clinical course of patients with Idiopathic Pulmonary Fibrosis. Ann Intern Med. 2005, 142: 963-967. 10.7326/0003-4819-142-12_Part_1-200506210-00005.
Kim DS, Collard HR, King TE: Classification and natural history of the idiopathic interstitial pneumonias. Proc Am Thorac Soc. 2006, 3: 285-292. 10.1513/pats.200601-005TK.
Cottin V, Nunes H, Brillet PY, Delaval P, Devouassoux G, Tillie-Leblond I, Israel-Biet D, Court-Fortune I, Valeyre D, Cordier JF, The Grouped’Etude et de Recherchesur les Maladies “Orpheline” Pulmonaires (GERM”O”P): Combined pulmonary fibrosis and emphysema: a distinct underrecognised entity. Eur Respir J. 2005, 26: 586-593. 10.1183/09031936.05.00021005.
Nashimura K, Kitaichi M, Izumi T, Nagai S, Kanaoka M, Itoh H: Usual interstitial pneumonia: histologic correlation with high-resolution CT. Radiology. 1992, 182: 337-342.
Thomeer M, Grutters JC, Wuyts WA, Willems S, Demedts MG: Clinical use of biomarkers of survival in pulmonary fibrosis. Respir Res. 2010, 11: 89-10.1186/1465-9921-11-89.
Vij R, Noth I: Peripheral blood biomarkers in idiopathic pulmonary fibrosis. Transl Res. 2012, 159: 218-227. 10.1016/j.trsl.2012.01.012.
Zhang Y, Kaminski N: Biomarkers in idiopathic pulmonary fibrosis. Curr Opin Pulm Med. 2012, 18: 441-446. 10.1097/MCP.0b013e328356d03c.
Kaas DJ, Kaminski N: Evolving genomic approaches to idiopathic pulmonary fibrosis: moving beyond genes. Clin Transl Sci. 2011, 4: 372-379. 10.1111/j.1752-8062.2011.00287.x.
Selman M, Pardo A, Barrera L, Estrada A, Watson SR, Wilson K, Aziz N, Kaminski N, Zlotnik A: Gene expression profiles distinguish idiopathic pulmonary fibrosis from hypersensitivity pneumonitis. Am J Respir Crit Care Med. 2006, 173: 188-198. 10.1164/rccm.200504-644OC.
Selman M, Carrillo G, Estrada A, Mejia M, Becerril C, Cisneros J, Gaxiola M, Pérez-Padilla R, Navarro C, Richards T, Dauber J, King TE, Pardo A, Kaminski N: Accelerated variant of idiopathic pulmonary fibrosis: clinical behavior and gene expression pattern. PLoS One. 2007, 5: 482-
Boon K, Bailey NW, Yang J, Steel MP, Groshong S, Kervitsky D, Brown KK, Schwarz MI, Schwartz DA: Molecular phenotypes distinguish patients with relatively stable from progressive Idiopathic Pulmonary Fibrosis (IPF). PLoS One. 2009, 4: 5134-10.1371/journal.pone.0005134.
Konishi K, Gibson KF, Lindell KO, Richards TJ, Zhang Y, Dhir R, Bisceglie M, Gilbert S, Yousem SA, Song JW, Kim DS, Kaminski N: Gene expression profiles of acute exacerbation of Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2009, 180: 167-175. 10.1164/rccm.200810-1596OC.
Ecclestone A, De Witt N, Gunter C, Marte B, Nath D: Epigenetics. Nature. 2007, 447: 395-10.1038/447395a.
Sanders YY, Hagood JS: The effects of histon deacetylase inhibitors on fibrotic lung fibroblasts survival and apoptosis. Am J Respir Crit Care Med. 2010, 181: A2015-
Yang IV, Schwartz DA: Epigenetic control of gene expression in the lung. Am J Respir Crit Care Med. 2011, 183: 1295-1301. 10.1164/rccm.201010-1579PP.
Sanders YY, Ambalavanan N, Halloran B, Zhang X, Liu H, Crossman DK, Bray M, Zhang K, Thannickal VJ, Hagood JS: Altered DNA methylation profile in Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2012, 186: 525-535. 10.1164/rccm.201201-0077OC.
Pandit KV, Milosevic J, Kaminski N: MicroRNAs in idiopathic pulmonary fibrosis. Transl Res. 2011, 157: 191-199. 10.1016/j.trsl.2011.01.012.
Liu G, Friggeri A, Yang Y, Milosevic J, Ding Q, Thannickal VJ, Kaminski N, Abraham E: miR-21mediates fibrogenic activation of pulmonary fibroblasts and lung fibrosis. J Exp Med. 2010, 207: 1589-1597. 10.1084/jem.20100035.
Pottier N, Maurin T, Chevalier B, Puisségur MP, Lebrigand K, Robbe-Sermesant K, Bertero T, Cardenas CLL, Courcot E, Rios G, Fourre S, Lo Guidice JM, Marcet B, Cardinaud B, Barbry P, Mari B: Identification of keratinocyte growth factor as a target of microRNA-155 in lung fibroblasts: implication in epithelial-mesenchymal interactions. PLoS One. 2009, 4: e6718-10.1371/journal.pone.0006718.
Pandit KV, Corcoran D, Yousef H, Yarlagadda M, Tzouvelekis A, Gibson KF, Konishi K, Yousem SA, Singh M, Handley D, Richards T, Selman M, Watkins SC, Pardo A, Ben-Yehudah A, Bouros D, Eickelberg O, Ray P, Benos PV, Kaminski N: Inhibition and role of let-7d in Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2010, 182: 220-229. 10.1164/rccm.200911-1698OC.
Yang IV: Epigenomics of idiopathic pulmonary fibrosis. Epigenomics. 2012, 4: 195-203. 10.2217/epi.12.10.
Dakhlallah D, Batte K, Wang Y, Cantemir-Stone CZ, Yan P, Nuovo G, Mikhail A, Hitchcock CL, Wright VP, Nana-Sinkam SP, Piper MG, Marsh CB: Epigenetic regulation of miR-17 92 contributes to the pathogenesis of Pulmonary Fibrosis. Am J Respir Crit Care Med. 2013, 187: 397-405. 10.1164/rccm.201205-0888OC.
Flaherty KR, Travis WD, Colby TV, Toews GB, Kazeroony EA, Gross BH, Jain A, Strawdermann RL, Flint A, Lynch JP, Martinez FJ: Histopathologic variability in usual and nonspecific Interstitial Pneumonias. Am J Respir Crit Care Med. 2001, 164: 1722-1727. 10.1164/ajrccm.164.9.2103074.
Utz JP, Ryu JH, Douglas WW, Hartman TE, Tazelaar HD, Myers JL, Allen MS, Schroeder DR: High short-term mortality following lung biopsy for usual interstitial pneumonia. Eur Respir J. 2001, 17: 175-179. 10.1183/09031936.01.17201750.
Prasse A, Muller-Quernheim J: Non-invasive biomarkers in pulmonary fibrosis. Respirology. 2009, 14: 788-795. 10.1111/j.1440-1843.2009.01600.x.
Rosas IO, Richards TJ, Konishi K, Zhang Y, Gibson K, Lokshin AE, Lindell KO, Cisneros J, MacDonald SD, Pardo A, Sciurba F, Dauber J, Seman M, Gochuico BR, Kaminski N: MMP1 and MMP7 as potential peripheral blood biomarkers in Idiopathic Pulmonary Fibrosis. PLoS Med. 2008, 5: 93-10.1371/journal.pmed.0050093.
Greene KE, King TE, Kuroki Y, Bucher-Bartelson B, Hunninghake GW, Newman LS, Nagae H, Mason RJ: Serum surfactants proteins-A and -D as biomarkers in idiopathic pulmonary fibrosis. Eur Respir J. 2002, 19: 439-446. 10.1183/09031936.02.00081102.
Kinder BW, Brown KK, Mc Cormack FX, Ix JH, Kervitski A, Schwarz MI, King TE: Serum surfactant protein-A is a strong predictor of early mortality in Idiopathic Pulmonary Fibrosis. Chest. 2009, 135: 1557-1563. 10.1378/chest.08-2209.
Ohshimo S, Yokoyama A, Hattori N, Ishikawa N, Hirasawa Y, Kohno N: KL-6, a human MUC1 mucin, promotes proliferation and survival of lung fibroblasts. Biochem Biophys Res Commun. 2005, 338: 1845-1852. 10.1016/j.bbrc.2005.10.144.
Hirasawa Y, Kohno N, Yokohama A, Inoue Y, Abe M, Hiwada K: KL6, a human MUC1 mucin, is chemotactic for human fibroblasts. Am J Respir Cell Mol Biol. 1997, 17: 501-507. 10.1165/ajrcmb.17.4.2253.
Kobayas J, Kitamura S: KL-6: A serum marker for Interstitial Pneumonia. Chest. 1995, 108: 311-315. 10.1378/chest.108.2.311.
Ohnishi H, Yokoama A, Kondo K, Hamada H, Abe M, Nishimura K, Hiwada K, Kohno N: Comparative study of KL-6, surfactant protein-A, surfactant protein-D, and monocyte chemoattractant protein-1 as serum markers for Interstitial Lung Diseases. Am J Respir Crit Care Med. 2002, 165: 378-381. 10.1164/ajrccm.165.3.2107134.
Kinoshita K, Hamano H, Harado H, Kinoshita T, Igishi T, Hagino H, Ogawa T: Role of KL-6 in evaluating the disease severity of rheumatoid lung disease: comparison with HRCT. Respir Med. 2004, 98: 1131-1137. 10.1016/j.rmed.2004.04.003.
Satoh H, Kurishima K, Ishikawa H, Ohtsuka M: Increased levels of KL-6 and subsequent mortality in patients with interstitial lung diseases. J Intern Med. 2006, 260: 429-434. 10.1111/j.1365-2796.2006.01704.x.
Mantovani A, Sica A, Sozzani S, Allavena P, Vecchi A, Locati M: The chemokine system in diverse forms of macrophage activation and polarization. Trends Immunol. 2004, 25: 677-686. 10.1016/j.it.2004.09.015.
Prasse A, Pechkovsky DV, Toews GB, Jungraithmayr W, Kollert F, Goldman T, Vollmer E, Muller-Quernheim J, Zissel G: A vicious circle of alveolar macrophages and fibroblasts perpetuates Pulmonary Fibrosis via CCL8. Am J Respir Crit Care Med. 2006, 173: 781-792. 10.1164/rccm.200509-1518OC.
Prasse A, Probst C, Bargagli E, Zissel G, Toews GB, Flaherty KR, Olschevski M, Rottoli P, Müller-Quernheim J: Serum CC-chemokine ligand 18 concentration predicts outcome in Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2009, 179: 717-723. 10.1164/rccm.200808-1201OC.
Suga M, Iyonaga K, Ichiyasu H, Saita N, Yamasaki H, Ando M: Clinical significance of MCP- 1 levels in BALF and serum in patients with interstitial lung diseases. Eur Respir J. 1999, 14: 376-382.
Furuhashi K, Suda T, Nakamura Y, Inui N, Hashimoto D, Miwa S, Hayakawa H, Kusagaya H, Nakano Y, Nakamura H, Chida K: Increased expression of YKL-40, a chitinase-like protein, in serum and lung of patients with idiopathic pulmonary fibrosis. Respir Med. 2010, 104: 1204-1210. 10.1016/j.rmed.2010.02.026.
Korthagen NM, Van Moorsel CHM, Barlo NP, Ruven HJT, Kruit A, Heron M, van den Bosch JMM, Grutters JC: Serum and BALF YKL-40 levels are predictors of survival in idiopathic pulmonary fibrosis. Respir Med. 2011, 105: 106-113. 10.1016/j.rmed.2010.09.012.
Hara A, Sakamoto N, Ishimatsu Y, Kakugawa T, Nakashima S, Hara S, Adachi M, Fujita H, Mukae H, Kohno S: S100A9 in BALF is a candidate biomarker of pulmonary fibrosis. Respir Med. 2012, 106: 571-580. 10.1016/j.rmed.2011.12.010.
Richards TJ, Kaminski N, Baribaud F, Flavin S, Brodmerkel C, Horowitz D, Li K, Choi J, Vuga LJ, Lindell KO, Klesen M, Zhang Y, Gibson KF: Peripheral Blood Proteins Predict Mortality in Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2012, 185: 67-76. 10.1164/rccm.201101-0058OC.
Moeller A, Gilpin SE, Ask K, Cox G, Cook D, Gauldie J, Margetts PJ, Farkas L, Dobranowski J, Boylan C, O’Byrne PM, Strieter RM, Kolb M: Circulating Fibrocyte Are an Indicator of Poor Prognosis in Idiopathic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2009, 179: 588-594. 10.1164/rccm.200810-1534OC.
Nukiwa T: Interstitial Lung Disease. The role of biomarkers in management of interstitial lung disease: implications of biomarkers derived from type II pneumocytes. Edited by: Du Bois RM, Richeldi L. 2009, ERS Monograph, 47-66. 46
Rottoli P, Bargagli E, Landi C, Magi B: Proteomic analysis in interstitial lung diseases: a review. Curr Opin Pulm Med. 2009, 15: 470-478. 10.1097/MCP.0b013e32832ea4f2.
Yang IV, Luna LG, Cotter J, Talbert J, Leach SM, Kidd R, Turner J, Kummer N, Kervitsky D, Brown KK, Boon K, Schwarz MI, Schwartz DA, Steele MP: The Peripheral Blood Transcriptome Identifies the Presence and Extent of Disease in Idiopathic Pulmonary Fibrosis. PLoS One. 2012, 7: 37708-10.1371/journal.pone.0037708.
Rottoli P, Magi B, Perari MG, Liberatori S, Nikiforakis N, Bargagli E, Cianti R, Bini L, Pallini V: Cytokine profile and proteome analysis in bronchoalveolar lavage of patients with sarcoidosis, pulmonary fibrosis associated with systemic sclerosis and idiopathic pulmonary fibrosis. Proteomics. 2005, 5: 1423-1430. 10.1002/pmic.200301007.
Studer SM, Kaminski N: Towards systems biology of human Pulmonary Fibrosis. Proc Am Thorac Soc. 2007, 4: 85-91. 10.1513/pats.200607-139JG.
Center DM, Schwartz DA, Solway J, Gail D, Laposki AD, Lin QS, Gan W: Genomic medicine and lung diseases. Am J Respir Crit Care Med. 2012, 186: 280-285. 10.1164/rccm.201203-0569WS.
Lee JS, McLaughlin S, Collard HR: Comprehensive care of the patient with idiopathic pulmonary fibrosis. Curr Opin Pulm Med. 2011, 17: 348-354. 10.1097/MCP.0b013e328349721b.
Yang IV, Burch LH, Steele MP, Savov JD, Hollingsworth JW, McElvania-Tekippe E, Berman KG, Speer MC, Sporn TA, Brown KK, Schwarz MI, Schwartz DA: Gene expression profiling of familial and sporadic Interstitial Pneumonia. Am J Respir Crit Care Med. 2007, 175: 45-54. 10.1164/rccm.200601-062OC.
Danil ZD, Papageorgiou E, Koutsokera A, Kostikas K, Kiropoulos T, Papaioannou AI, Gourgoulianis KI: Serum levels of oxidative stress as a marker of disease severity in idiopathic pulmonary fibrosis. Pulm Pharmacol Ther. 2008, 21: 26-31. 10.1016/j.pupt.2006.10.005.
Cronkhite JT, Xing C, Raghu G, Chin KM, Torres F, Rosenblatt RL, Garcia CK: Telomere shortening in familial and sporadic Pulmonary Fibrosis. Am J Respir Crit Care Med. 2008, 178: 729-737. 10.1164/rccm.200804-550OC.
Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, Fingerlin TE, Zhang W, Gudmundsson G, Groshong SD, Evans CM, Garantziotis S, Adler KB, Dickey BF, Du Bois RM, Yang IV, Herron A, Kervitsky D, Talbert JL, Markin C, Park J, Crews AL, Slifer SH, Auerbach S, Roy MG, Lin J, Hennessy CM, Schwarz MI, Schwartz DA: A common MUC5B promoter polymorphism and Pulmonary Fibrosis. N Eng J Med. 2011, 364: 1503-1512. 10.1056/NEJMoa1013660.
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