Interstitial lung diseases in children

Presse Medicale - Tập 49 - Trang 103909 - 2020
Nadia Nathan1,2, Laura Berdah1,2, Céline Delestrain1, Chiara Sileo3, Annick Clement1,2
1Pediatric pulmonology department, Trousseau hospital, reference center for rare lung diseases RespiRare, Assistance publique–Hôpitaux de Paris (AP–HP), , 75012 Paris, France
2Sorbonne université and Inserm UMRS933, 75012 Paris, France
3Radiology department, AP–HP, Trousseau hospital, 75012 Paris, France

Tài liệu tham khảo

Weibel, 1977

Kurland, 2013, An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy, Am J Respir Crit Care Med, 188, 376, 10.1164/rccm.201305-0923ST

Rice, 2013, Diffuse lung disease in infancy and childhood: expanding the chILD classification, Histopathology, 63, 743, 10.1111/his.12185

Steele, 2013, Molecular mechanisms in progressive idiopathic pulmonary fibrosis, Annu Rev Med, 64, 265, 10.1146/annurev-med-042711-142004

Ahluwalia, 2014, New therapeutic targets in idiopathic pulmonary fibrosis. Aiming to rein in runaway wound-healing responses, Am J Respir Crit Care Med, 190, 867, 10.1164/rccm.201403-0509PP

Camelo, 2014, The epithelium in idiopathic pulmonary fibrosis: breaking the barrier, Front Pharmacol, 4, 173, 10.3389/fphar.2013.00173

Pardo, 2016, Lung fibroblasts, aging, and idiopathic pulmonary fibrosis, Ann Am Thorac Soc, 13, S417, 10.1513/AnnalsATS.201605-341AW

Clement, 2016, Management of children with interstitial lung diseases: the difficult issue of acute exacerbations, Eur Respir J, 48, 1559, 10.1183/13993003.01900-2016

Sosulski, 2015, Deregulation of selective autophagy during aging and pulmonary fibrosis: the role of TGFβ1, Aging Cell, 14, 774, 10.1111/acel.12357

Galati, 2014, Peripheral depletion of NK cells and imbalance of the Treg/Th17 axis in idiopathic pulmonary fibrosis patients, Cytokine, 66, 119, 10.1016/j.cyto.2013.12.003

Antoniou, 2015, Idiopathic pulmonary fibrosis and lung cancer: a clinical and pathogenesis update, Curr Opin Pulm Med, 21, 626, 10.1097/MCP.0000000000000217

Nathan, 2018, Genetic causes and clinical management of pediatric interstitial lung diseases, Curr Opin Pulm Med, 24, 253, 10.1097/MCP.0000000000000471

Kang, 2017, Role of microRNAs in TGF-β signaling pathway-mediated pulmonary fibrosis, Int J Mol Sci, 18, 10.3390/ijms18122527

Kiszałkiewicz, 2017, Signaling pathways and their miRNA regulators involved in the etiopathology of idiopathic pulmonary fibrosis (IPF) and hypersensitivity pneumonitis (HP), Adv Respir Med, 85, 169, 10.5603/ARM.2017.0029

Helling, 2015, Epigenetics in lung fibrosis: from pathobiology to treatment perspective, Curr Opin Pulm Med, 21, 454, 10.1097/MCP.0000000000000191

Moore, 2015, Viruses in idiopathic pulmonary fibrosis. Etiology and Exacerbation, Ann Am Thorac Soc, 12, S186, 10.1513/AnnalsATS.201502-088AW

Newton, 2018, Clinical genetics in interstitial lung disease, Front Med (Lausanne), 5, 116, 10.3389/fmed.2018.00116

Kumar, 2018, Current concepts in pathogenesis, diagnosis, and management of smoking-related interstitial lung diseases, Chest, 154, 394, 10.1016/j.chest.2017.11.023

Taskar, 2006, Is idiopathic pulmonary fibrosis an environmental disease?, Proc Am Thorac Soc, 3, 293, 10.1513/pats.200512-131TK

Vancheri, 2015, IPF, comorbidities and management implications, Sarcoidosis Vasc Diffuse Lung Dis, 32, 17

Dziekiewicz, 2016, Gastroesophageal reflux disease in children with interstitial lung disease, Adv Exp Med Biol, 912, 57, 10.1007/5584_2016_229

American Thoracic Society, 2002, Am J Respir Crit Care Med, 165, 277, 10.1164/ajrccm.165.2.ats01

Travis, 2013, An official American Thoracic Society/European Respiratory Society statement: Update of the international multidisciplinary classification of the idiopathic interstitial pneumonias, Am J Respir Crit Care Med, 188, 733, 10.1164/rccm.201308-1483ST

Raghu, 2018, Diagnosis of idiopathic pulmonary fibrosis. An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline, Am J Respir Crit Care Med, 198, e44, 10.1164/rccm.201807-1255ST

Deutsch, 2007, Diffuse lung disease in young children: application of a novel classification scheme, Am J Respir Crit Care Med, 176, 1120, 10.1164/rccm.200703-393OC

Bush, 2015, European protocols for the diagnosis and initial treatment of interstitial lung disease in children, Thorax, 70, 1078, 10.1136/thoraxjnl-2015-207349

Soares, 2013, Childhood interstitial lung diseases: an 18-year retrospective analysis, Pediatrics, 132, 684, 10.1542/peds.2013-1780

Nathan, 2011, Interstitial lung disease: physiopathology in the context of lung growth, Paediatr Respir Rev, 12, 216, 10.1016/j.prrv.2011.04.003

Spagnolo, 2016, Interstitial lung disease in children younger than 2 years, Pediatrics, 137, 10.1542/peds.2015-2725

Nathan, 2018, Chronic interstitial lung diseases in children: diagnosis approaches, Expert Rev Respir Med, 12, 1051, 10.1080/17476348.2018.1538795

Griese, 2017, International management platform for children's interstitial lung disease (chILD-EU), Thorax, 73, 231, 10.1136/thoraxjnl-2017-210519

Fan, 2015, Diffuse lung disease in biopsied children 2–18 years of age: application of the chILD classification scheme, Ann Am Thorac Soc, 12, 1498, 10.1513/AnnalsATS.201501-064OC

Hime, 2015, Childhood interstitial lung disease: a systematic review, Pediatr Pulmonol, 50, 1383, 10.1002/ppul.23183

Dinwiddie, 2002, Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland, Pediatr Pulmonol, 34, 23, 10.1002/ppul.10125

Bajaj, 2017, Rare disease heralded by pulmonary manifestations: avoiding pitfalls of an “asthma” label, J Postgrad Med, 63, 122, 10.4103/0022-3859.201416

Semple, 2017, Interstitial lung disease in children made easier…well, almost, Radiographics, 37, 1679, 10.1148/rg.2017170006

Koh, 2000, Computed tomography of diffuse interstitial lung disease in children, Clin Radiol, 55, 659, 10.1053/crad.2000.0490

Guillerman, 2010, Imaging of childhood interstitial lung disease, Pediatr Allergy Immunol Pulmonol, 23, 43, 10.1089/ped.2010.0010

Vrielynck, 2008, Diagnostic value of high-resolution CT in the evaluation of chronic infiltrative lung disease in children, AJR Am J Roentgenol, 191, 914, 10.2214/AJR.07.2710

Dournes, 2015, Quiet Submillimeter MR imaging of the lung is feasible with a PETRA sequence at 1.5T, Radiology, 276, 258, 10.1148/radiol.15141655

Midulla, 1995, Bronchoalveolar lavage studies in children without parenchymal lung disease: cellular constituents and protein levels, Pediatr Pulmonol, 20, 112, 10.1002/ppul.1950200211

Fortmann, 2018, Diagnostic accuracy and therapeutic relevance of thoracoscopic lung biopsies in children, Pediatr Pulmonol, 53, 948, 10.1002/ppul.23999

Borie, 2018

Fink, 2005, Needs and opportunities for research in hypersensitivity pneumonitis, Am J Respir Crit Care Med, 171, 792, 10.1164/rccm.200409-1205WS

Vasakova, 2017, Hypersensitivity pneumonitis: perspectives in diagnosis and management, Am J Respir Crit Care Med, 196, 680, 10.1164/rccm.201611-2201PP

Nacar, 2004, Hypersensitivity pneumonitis in children: pigeon breeder's disease, Ann Trop Paediatr, 24, 349, 10.1179/027249304225019181

Kim, 2014, Humidifier disinfectant-associated children's interstitial lung disease, Am J Respir Crit Care Med, 189, 48, 10.1164/rccm.201306-1088OC

Dell, 2012, Diffuse and interstitial lung disease and childhood rheumatologic disorders, Curr Opin Rheumatol, 24, 530, 10.1097/BOR.0b013e328356813e

Taytard, 2013, New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(®) cohort, Orphanet J Rare Dis, 8, 161, 10.1186/1750-1172-8-161

Reich, 2013, Shortfalls in imputing sarcoidosis to occupational exposures, Am J Ind Med, 56, 496, 10.1002/ajim.22083

Nathan, 2015, Lung sarcoidosis in children: update on disease expression and management, Thorax, 70, 537, 10.1136/thoraxjnl-2015-206825

Hoffmann, 2004, Childhood sarcoidosis in Denmark 1979–1994: incidence, clinical features and laboratory results at presentation in 48 children, Acta Paediatr, 93, 30, 10.1111/j.1651-2227.2004.tb00670.x

Milman, 2008, Childhood sarcoidosis: long-term follow-up, Eur Respir J, 31, 592, 10.1183/09031936.00011507

Gülhan, 2012, Different features of lung involvement in Niemann-Pick disease and Gaucher disease, Respir Med, 106, 1278, 10.1016/j.rmed.2012.06.014

Houin, 2016, Exacerbations in neuroendocrine cell hyperplasia of infancy are characterized by increased air trapping, Pediatr Pulmonol, 51, E9, 10.1002/ppul.23347

Rauch, 2016, Persistent tachypnea of infancy. Usual and aberrant, Am J Respir Crit Care Med, 193, 438, 10.1164/rccm.201508-1655OC

Young, 2011, Neuroendocrine cell distribution and frequency distinguish neuroendocrine cell hyperplasia of infancy from other pulmonary disorders, Chest, 139, 1060, 10.1378/chest.10-1304

Yancheva, 2015, Bombesin staining in neuroendocrine cell hyperplasia of infancy (NEHI) and other childhood interstitial lung diseases (chILD), Histopathology, 67, 501, 10.1111/his.12672

Nevel, 2016, Persistent lung disease in adults with NKX2.1 mutation and familial neuroendocrine cell hyperplasia of infancy, Ann Am Thorac Soc, 13, 1299, 10.1513/AnnalsATS.201603-155BC

Jiramethee, 2017, Pulmonary neuroendocrine cell hyperplasia associated with surfactant protein C gene mutation, Case Rep Pulmonol, 2017, 9541419

Sardón, 2019, Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: a long-term follow-up study, Pediatr Pulmonol, 54, 837, 10.1002/ppul.24324

Langston, 2009, Diffuse lung disease in infancy: a proposed classification applied to 259 diagnostic biopsies, Pediatr Dev Pathol, 12, 421, 10.2350/08-11-0559.1

Szafranski, 2016, Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs, Am J Med Genet A, 170, 2440, 10.1002/ajmg.a.37822

Barnett, 2016, Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by Exome sequencing, Hum Mutat, 37, 955, 10.1002/humu.23032

Szafranski, 2014, Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins, Am J Med Genet A, 164A, 2013, 10.1002/ajmg.a.36606

Shelmerdine, 2017, (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification, Pediatr Pulmonol, 52, 1306, 10.1002/ppul.23695

Tarantino, 2016, Lung involvement in children with hereditary autoinflammatory disorders, Int J Mol Sci, 17, 10.3390/ijms17122111

Nogee, 1993, Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis, N Engl J Med, 328, 406, 10.1056/NEJM199302113280606

Nogee, 1994, A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds, J Clin Invest, 93, 1860, 10.1172/JCI117173

Hawkins, 2015, A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy, Am J Physiol Lung Cell Mol Physiol, 308, L33, 10.1152/ajplung.00217.2014

Avital, 2014, Natural history of five children with surfactant protein C mutations and interstitial lung disease, Pediatr Pulmonol, 49, 1097, 10.1002/ppul.22971

Abou Taam, 2009, Familial interstitial disease with I73T mutation: a mid- and long-term study, Pediatr Pulmonol, 44, 167, 10.1002/ppul.20970

Gupta, 2017, Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate, Arch Dis Child, 102, 84, 10.1136/archdischild-2012-303143

Litao, 2017, A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy, Pediatr Pulmonol, 52, 57, 10.1002/ppul.23493

Delestrain, 2017, Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype, Eur J Hum Genet, 25, 779, 10.1038/ejhg.2017.36

Shulenin, 2004, ABCA3 gene mutations in newborns with fatal surfactant deficiency, N Engl J Med, 350, 1296, 10.1056/NEJMoa032178

Epaud, 2014, Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations, Eur Respir J, 43, 638, 10.1183/09031936.00145213

Wambach, 2012, Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome, Pediatrics, 130, e1575, 10.1542/peds.2012-0918

Zhou, 2017, Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population, Sci Rep, 7, 4097, 10.1038/s41598-017-04486-y

Kröner, 2017, Lung disease caused by ABCA3 mutations, Thorax, 72, 213, 10.1136/thoraxjnl-2016-208649

Höppner, 2017, Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter, Biochim Biophys Acta Mol Cell Res, 1864, 2330, 10.1016/j.bbamcr.2017.08.013

Schindlbeck, 2018, ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes, Hum Mutat, 39, 841, 10.1002/humu.23416

Kinting, 2018, Functional rescue of misfolding ABCA3 mutations by small molecular correctors, Hum Mol Genet, 27, 943, 10.1093/hmg/ddy011

Devriendt, 1998, Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure, N Engl J Med, 338, 1317, 10.1056/NEJM199804303381817

Hamvas, 2013, Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1, Chest, 144, 794, 10.1378/chest.12-2502

Jovien, 2016, Respiratory distress, congenital hypothyroidism and hypotonia in a newborn, Respiration, 92, 188, 10.1159/000449136

Hoover, 1998, Organization of the human SP-A and SP-D loci at 10q22-q23. Physical and radiation hybrid mapping reveal gene order and orientation, Am J Respir Cell Mol Biol, 18, 353, 10.1165/ajrcmb.18.3.3035

Coghlan, 2014, Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations, BMJ Open Respir Res, 1, e000057, 10.1136/bmjresp-2014-000057

van Moorsel, 2015, SFTPA2 mutations in familial and sporadic idiopathic interstitial pneumonia, Am J Respir Crit Care Med, 192, 1249, 10.1164/rccm.201504-0675LE

Doubková, 2019, A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia, Hum Genome Var, 6, 12, 10.1038/s41439-019-0044-z

Hildebrandt, 2014, Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis, Orphanet J Rare Dis, 9, 171, 10.1186/s13023-014-0171-z

Suzuki, 2011, Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations, Eur Respir J, 37, 201, 10.1183/09031936.00090610

Jeremiah, 2014, Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations, J Clin Invest, 124, 5516, 10.1172/JCI79100

Liu, 2014, Activated STING in a vascular and pulmonary syndrome, N Engl J Med, 371, 507, 10.1056/NEJMoa1312625

Watkin, 2015, COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis, Nat Genet, 47, 654, 10.1038/ng.3279

Nathan, 2017

Braun, 2015, Hydroxychloroquine in children with interstitial (diffuse parenchymal) lung diseases, Pediatr Pulmonol, 50, 410, 10.1002/ppul.23133

Thouvenin, 2013, Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin, BMJ Case Rep, 2013, 10.1136/bcr-2013-009988

Richeldi, 2014, Efficacy and safety of Nintedanib in idiopathic pulmonary fibrosis, N Engl J Med, 370, 2071, 10.1056/NEJMoa1402584

Raghu, 1999, Treatment of idiopathic pulmonary fibrosis with a new antifibrotic agent, pirfenidone: results of a prospective, open-label Phase II study, Am J Respir Crit Care Med, 159, 1061, 10.1164/ajrccm.159.4.9805017

Campo, 2016, Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures, Orphanet J Rare Dis, 11, 115, 10.1186/s13023-016-0497-9

Lauby, 2019, Health-related quality of life in infants and children with interstitial lung disease, Pediatr Pulmonol, 54, 828, 10.1002/ppul.24308

Borie, 2017, Management of suspected monogenic lung fibrosis in a specialised centre, Eur Respir Rev, 26, 10.1183/16000617.0122-2016