特发性肺纤维化的诊疗进展
摘要
特发性肺纤维化(IPF)是一种进行性、不可逆、致命的肺部疾病。目前,其发病机制仍不甚清楚,诊断技术和治疗方法仍在探索与发展。本研究就国际上对IPF发病机制的研究、诊断标准更新和实践情况、治疗药物前沿研究进展进行论述与总结,同时对现存问题及前景进行了客观描述,以期对国内医务人员的临床工作有所帮助。
引文
[1] Nogee L, Dunbar AE, Wert S, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease[J]. N Engl J Med, 2001,344(8):573-579.
[2] Tanjore H, Cheng DS, Degryse AL, et al. Alveolar epithelial cells undergo epithelial-to-mesenchymal transition in response to endoplasmic reticulum stress[J]. J Biol Chem, 2011,286(35):30972-30980.
[3] Nathan N, Giraud V, Picard C, et al. Germline SFTPA1mutation in familial idiopathic interstitial pneumonia and lung cancer[J]. Hum Mol Genet, 2016,25(8):1457-1467.
[4] Wang Y, Kuan PJ, Xing C, et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer[J]. Am J Hum Genet, 2009,84(1):52-59.
[5] Crossno PF, Polosukhin VV, Blackwell TS, et al. Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC[J]. Chest,2010,137(4):969-973.
[6] Stanley SE, Gable DL, Wagner CL, et al. Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema[J]. Sci Transl Med, 2016,8(351):ra107-351.
[7] Armanios M. Telomerase and idiopathic pulmonary fibrosis[J]. Mutat Res, 2012,730(1-2):52-58.
[8] Kropski JA, Mitchell DB, Markin C, et al. A novel dyskerin(DKC1)mutation is associated with familial interstitial pneumonia[J]. Chest, 2014,146(1):e1-7.
[9] Alder JK, Stanley SE, Wagner CL, et al. Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis[J]. Chest, 2015,147(5):1361-1368.
[10] Stuart BD, Choi J, Zaidi S, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening[J]. Nat Genet, 2015,47(5):512-517.
[11] Tummala H, Walne A, Collopy L, et al. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenital[J]. J Clin Invest, 2015,125(5):2151-2160.
[12] Seibold MA, Wise AL, Speer MC, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis[J]. N Engl J Med, 2012,364(16):1503-1512.
[13] Taskar VS. Is idiopathic pulmonary fibrosis an environmental disease?[J]. Proc Am Thorac Soc, 2006,3(4):293-298.
[14] Spira A, Beane J, Shah V, et al. Effects of cigarette smoke on the human airway epithelial cell transcriptome[J]. Proc Natl Acad Sci, 2004,101(27):10143-10148.
[15] Taskar V, Coultas D. Exposures and idiopathic lung disease[J]. Semin Respir Crit Care Med, 2008,29(6):670-679.
[16] Han MLK, Zhou Y, Murray S, et al. Lung microbiome and disease progression in idiopathic pulmonary fibrosis:an analysis of the COMET study[J]. Lancet. Respir Med,2014,2(7):548-556.
[17] Huang Y, Ma SF, Espindola MS, et al. Microbes are associated with host innate immune response in idiopathic pulmonary fibrosis[J]. Am J Respir Crit Care Med, 2017,196(2):208-219.
[18] Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement:idiopathic pulmonary fibrosis:evidence-based guidelines for diagnosis and management[J]. Am J Respir Crit Care Med, 2011,183(6):788-824.
[19] Ryerson CJ, Urbania TH, Richeldi L, et al. Prevalence and prognosis of unclassifiable interstitial lung disease[J].Eur Respir J, 2013,42(3):750-757.
[20] Watadani T, Sakai F, Johkoh T, et al. Interobserver variability in the CT assessment of honeycombing in the lungs[J]. Radiology, 2013,266(3):936-944.
[21] Raghu G, Lynch D, Godwin JD, et al. Diagnosis of idiopathic pulmonary fibrosis with high-resolution CT in patients with little or no radiological evidence of honeycombing:secondary analysis of a randomised, controlled trial[J]. Lancet Respir Med, 2014,2(4):277-284.
[22] Raghu G, Wells AU, Nicholson AG, et al. Effect of nintedanib in subgroups of idiopathic pulmonary fibrosis by diagnostic criteria[J]. Am J Respir Crit Care Med, 2017,195(1):78-85.
[23] Ryerson CJ, Corte TJ, Lee JS, et al. A Standardized Diagnostic Ontology for Fibrotic Interstitial Lung Disease:An International Working Group Perspective[J]. Am J Respir Crit Care Med, 2017,196(10):1249-1254.
[24] Fell CD, Martinez FJ, Liu LX, et al. Clinical predictors of a diagnosis of idiopathic pulmonary fibrosis[J]. Am J Respir Crit Care Med, 2010,181(8):832-837.
[25] Salisbury ML, Xia M, Murray S, et al. Predictors of idiopathic pulmonary fibrosis in absence of radiologic honeycombing:a cross sectional analysis in ILD patients undergoing lung tissue sampling[J]. Respir Med, 2016(118):88-95.
[26] King TE, Bradford WZ, Castro-Bernardini S, et al. A phase 3 trial of Pirfenidone in patients with idiopathic pulmonary fibrosis[J]. N Engl J Med, 2014,370(22):2083-2092.
[27] Azuma A, Nukiwa T, Tsuboi E, et al. Double-blind,placebo-controlled trial of pirfenidone in patients with idiopathic pulmonary fibrosis[J]. Am J Respir Crit Care Med,2005,171(9):1040-1047.
[28] Taniguchi H, Ebina M, Kondoh Y, et al. Pirfenidone in idiopathic pulmonary fibrosis[J]. Eur Respir J, 2010,35(4):821-829.
[29] Noble PW, Albera C, Bradford WZ, et al. Pirfenidone in patients with idiopathic pulmonary fibrosis(CAPACITY):two randomised trials[J]. Lancet, 2011,377(9779):1760-1769.
[30] Costabel U, Albera C, Bradford WZ, et al. Analysis of lung function and survival in RECAP:an open-label extension study of pirfenidone in patients with idiopathic pulmonary fibrosis[J]. Sarcoidosis Vasc Diffus Lung Dis,2014,31(3):198-205.
[31] Richeldi L, Costabel U, Selman M, et al. Efficacy of a tyrosine Kinase inhibitor in idiopathic pulmonary fibrosis[J]. N Engl J Med, 2011,365(12):1079-1087.
[32] Bonella F, Kreuter M, Hagmeyer L, et al. Insights from the German compassionate use program of Nintedanib for the treatment of idiopathic pulmonary fibrosis[J]. Respiration, 2016,92(2):98-106.
[33] Sampson C, Gill BH, Harrison NK, et al. The care needs of patients with idiopathic pulmonary fibrosis and their carers(CaNoPy):results of a qualitative study[J]. BMC Pulm Med, 2015(15):155.
[34] Lindell KO, Liang Z, Hoffman LA, et al. Palliative care and location of death in decedents with idiopathic pulmonary fibrosis[J]. Chest, 2015,147(2):423-429.
[35] Horton MR, Santopietro V, Mathew L, et al. Thalidomide for the treatment of cough in idiopathic pulmonary fibrosis:a randomized trial[J]. Ann Intern Med, 2012,157(6):398-406.
[36] Lindell KO, Olshansky E, Song MK, et al. Impact of a disease-management program on symptom burden and health-related quality of life in patients with idiopathic pulmonary fibrosis and their care partners[J]. Hear Lung J Acute Crit Care, 2010, 39(4):304-313.
[37] Gomes-Neto M, Silva CM, Ezequiel D, et al. Impact of Pulmonary Rehabilitation on Exercise Tolerance and Quality of Life in Patients With Idiopathic Pulmonary Fibrosis:A SYSTEMATIC REVIEW AND META-ANALYSIS[J]. J Cardiopulm Rehabili Prev, 2018,38(5):273-278.
[38] Jones MG, Fabre A, Schneider P, et al. Three-dimensional characterization of fibroblast foci in idiopathic pulmonary fibrosis[J]. JCI Insight[Internet], 2016:1.
[39] Maher TM, Oballa E, Simpson JK, et al. An epithelial biomarker signature for idiopathic pulmonary fibrosis:an analysis from the multicentre PROFILE cohort study[J].Lancet Respir Med, 2017,5(12):946-955.
[2] Tanjore H, Cheng DS, Degryse AL, et al. Alveolar epithelial cells undergo epithelial-to-mesenchymal transition in response to endoplasmic reticulum stress[J]. J Biol Chem, 2011,286(35):30972-30980.
[3] Nathan N, Giraud V, Picard C, et al. Germline SFTPA1mutation in familial idiopathic interstitial pneumonia and lung cancer[J]. Hum Mol Genet, 2016,25(8):1457-1467.
[4] Wang Y, Kuan PJ, Xing C, et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer[J]. Am J Hum Genet, 2009,84(1):52-59.
[5] Crossno PF, Polosukhin VV, Blackwell TS, et al. Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC[J]. Chest,2010,137(4):969-973.
[6] Stanley SE, Gable DL, Wagner CL, et al. Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema[J]. Sci Transl Med, 2016,8(351):ra107-351.
[7] Armanios M. Telomerase and idiopathic pulmonary fibrosis[J]. Mutat Res, 2012,730(1-2):52-58.
[8] Kropski JA, Mitchell DB, Markin C, et al. A novel dyskerin(DKC1)mutation is associated with familial interstitial pneumonia[J]. Chest, 2014,146(1):e1-7.
[9] Alder JK, Stanley SE, Wagner CL, et al. Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis[J]. Chest, 2015,147(5):1361-1368.
[10] Stuart BD, Choi J, Zaidi S, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening[J]. Nat Genet, 2015,47(5):512-517.
[11] Tummala H, Walne A, Collopy L, et al. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenital[J]. J Clin Invest, 2015,125(5):2151-2160.
[12] Seibold MA, Wise AL, Speer MC, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis[J]. N Engl J Med, 2012,364(16):1503-1512.
[13] Taskar VS. Is idiopathic pulmonary fibrosis an environmental disease?[J]. Proc Am Thorac Soc, 2006,3(4):293-298.
[14] Spira A, Beane J, Shah V, et al. Effects of cigarette smoke on the human airway epithelial cell transcriptome[J]. Proc Natl Acad Sci, 2004,101(27):10143-10148.
[15] Taskar V, Coultas D. Exposures and idiopathic lung disease[J]. Semin Respir Crit Care Med, 2008,29(6):670-679.
[16] Han MLK, Zhou Y, Murray S, et al. Lung microbiome and disease progression in idiopathic pulmonary fibrosis:an analysis of the COMET study[J]. Lancet. Respir Med,2014,2(7):548-556.
[17] Huang Y, Ma SF, Espindola MS, et al. Microbes are associated with host innate immune response in idiopathic pulmonary fibrosis[J]. Am J Respir Crit Care Med, 2017,196(2):208-219.
[18] Raghu G, Collard HR, Egan JJ, et al. An official ATS/ERS/JRS/ALAT statement:idiopathic pulmonary fibrosis:evidence-based guidelines for diagnosis and management[J]. Am J Respir Crit Care Med, 2011,183(6):788-824.
[19] Ryerson CJ, Urbania TH, Richeldi L, et al. Prevalence and prognosis of unclassifiable interstitial lung disease[J].Eur Respir J, 2013,42(3):750-757.
[20] Watadani T, Sakai F, Johkoh T, et al. Interobserver variability in the CT assessment of honeycombing in the lungs[J]. Radiology, 2013,266(3):936-944.
[21] Raghu G, Lynch D, Godwin JD, et al. Diagnosis of idiopathic pulmonary fibrosis with high-resolution CT in patients with little or no radiological evidence of honeycombing:secondary analysis of a randomised, controlled trial[J]. Lancet Respir Med, 2014,2(4):277-284.
[22] Raghu G, Wells AU, Nicholson AG, et al. Effect of nintedanib in subgroups of idiopathic pulmonary fibrosis by diagnostic criteria[J]. Am J Respir Crit Care Med, 2017,195(1):78-85.
[23] Ryerson CJ, Corte TJ, Lee JS, et al. A Standardized Diagnostic Ontology for Fibrotic Interstitial Lung Disease:An International Working Group Perspective[J]. Am J Respir Crit Care Med, 2017,196(10):1249-1254.
[24] Fell CD, Martinez FJ, Liu LX, et al. Clinical predictors of a diagnosis of idiopathic pulmonary fibrosis[J]. Am J Respir Crit Care Med, 2010,181(8):832-837.
[25] Salisbury ML, Xia M, Murray S, et al. Predictors of idiopathic pulmonary fibrosis in absence of radiologic honeycombing:a cross sectional analysis in ILD patients undergoing lung tissue sampling[J]. Respir Med, 2016(118):88-95.
[26] King TE, Bradford WZ, Castro-Bernardini S, et al. A phase 3 trial of Pirfenidone in patients with idiopathic pulmonary fibrosis[J]. N Engl J Med, 2014,370(22):2083-2092.
[27] Azuma A, Nukiwa T, Tsuboi E, et al. Double-blind,placebo-controlled trial of pirfenidone in patients with idiopathic pulmonary fibrosis[J]. Am J Respir Crit Care Med,2005,171(9):1040-1047.
[28] Taniguchi H, Ebina M, Kondoh Y, et al. Pirfenidone in idiopathic pulmonary fibrosis[J]. Eur Respir J, 2010,35(4):821-829.
[29] Noble PW, Albera C, Bradford WZ, et al. Pirfenidone in patients with idiopathic pulmonary fibrosis(CAPACITY):two randomised trials[J]. Lancet, 2011,377(9779):1760-1769.
[30] Costabel U, Albera C, Bradford WZ, et al. Analysis of lung function and survival in RECAP:an open-label extension study of pirfenidone in patients with idiopathic pulmonary fibrosis[J]. Sarcoidosis Vasc Diffus Lung Dis,2014,31(3):198-205.
[31] Richeldi L, Costabel U, Selman M, et al. Efficacy of a tyrosine Kinase inhibitor in idiopathic pulmonary fibrosis[J]. N Engl J Med, 2011,365(12):1079-1087.
[32] Bonella F, Kreuter M, Hagmeyer L, et al. Insights from the German compassionate use program of Nintedanib for the treatment of idiopathic pulmonary fibrosis[J]. Respiration, 2016,92(2):98-106.
[33] Sampson C, Gill BH, Harrison NK, et al. The care needs of patients with idiopathic pulmonary fibrosis and their carers(CaNoPy):results of a qualitative study[J]. BMC Pulm Med, 2015(15):155.
[34] Lindell KO, Liang Z, Hoffman LA, et al. Palliative care and location of death in decedents with idiopathic pulmonary fibrosis[J]. Chest, 2015,147(2):423-429.
[35] Horton MR, Santopietro V, Mathew L, et al. Thalidomide for the treatment of cough in idiopathic pulmonary fibrosis:a randomized trial[J]. Ann Intern Med, 2012,157(6):398-406.
[36] Lindell KO, Olshansky E, Song MK, et al. Impact of a disease-management program on symptom burden and health-related quality of life in patients with idiopathic pulmonary fibrosis and their care partners[J]. Hear Lung J Acute Crit Care, 2010, 39(4):304-313.
[37] Gomes-Neto M, Silva CM, Ezequiel D, et al. Impact of Pulmonary Rehabilitation on Exercise Tolerance and Quality of Life in Patients With Idiopathic Pulmonary Fibrosis:A SYSTEMATIC REVIEW AND META-ANALYSIS[J]. J Cardiopulm Rehabili Prev, 2018,38(5):273-278.
[38] Jones MG, Fabre A, Schneider P, et al. Three-dimensional characterization of fibroblast foci in idiopathic pulmonary fibrosis[J]. JCI Insight[Internet], 2016:1.
[39] Maher TM, Oballa E, Simpson JK, et al. An epithelial biomarker signature for idiopathic pulmonary fibrosis:an analysis from the multicentre PROFILE cohort study[J].Lancet Respir Med, 2017,5(12):946-955.