Interstitial lung diseases in children |
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Affiliation: | 1. Pediatric pulmonology department, Trousseau hospital, reference center for rare lung diseases RespiRare, Assistance publique–Hôpitaux de Paris (AP–HP), , 75012 Paris, France;2. Sorbonne université and Inserm UMRS933, 75012 Paris, France;3. Radiology department, AP–HP, Trousseau hospital, 75012 Paris, France;1. Unité de pneumologie pédiatrique, Hôpital de La Timone Enfants, Aix-Marseille Université, Marseille, France;2. Centre Hospitalier Intercommunal Créteil; Inserm, U955, Equipe 5, Université Paris-Est, Faculté de Médecine, Créteil, France;3. Service de néonatologie, hôpital de la Conception, Marseille, France;4. Unité de réanimation pédiatrique, Hôpital de La Timone Enfants, Marseille, France;5. Hôpital San Salvadour, Assistance Publique Hôpitaux de Paris, Hyères, France;1. Unité 1152, Inserm, DHU FIRE, service de pneumologie A, centre de référence des maladies pulmonaires rares, université Paris Diderot, hôpital Bichat, AP–HP, 75013 Paris, France;2. Unité 1152, Inserm, laboratoire de génétique, université Paris Diderot, hôpital Bichat, AP–HP, 75013 Paris, France;3. Unité 1152, Inserm, service de radiologie, hôpital Bichat, AP–HP, 75018 Paris, France;4. Inserm, unité 1152, service d’antomopathologie, université Paris Diderot, hôpital Bichat, AP–HP, 75018 Paris, France;1. AP-HP, Hôpital Necker, Pediatric Noninvasive Ventilation and Sleep Unit, F-75015, Paris, France;2. AP-HP, Hôpital Necker, Pediatric Pulmonary Department, F-75015, Paris, France;3. AP-HP, Hôpital Necker, Pediatric Radiology, F-75015 Paris, France;4. ASV Santé, Gennevilliers, F-92000, France;5. Université de Paris, VIFASOM, F-75004, Paris, France;1. Servicio de Neumonología, Hospital Británico de Buenos Aires, Buenos Aires, Argentina;2. Servicio de Neumonología, Hospital María Ferrer, Buenos Aires, Argentina;3. Servicio de Endoscopía Pediátrica, Hospital Garraham, Buenos Aires, Argentina;4. Clínica Médica, Hospital Británico de Buenos Aires, Buenos Aires, Argentina |
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Abstract: | Interstitial lung disease (ILD) in children (chILD) is a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and the diseases share common features of inflammatory and fibrotic changes of the lung parenchyma that impair gas exchanges. The etiologies of chILD are numerous. In this review, we chose to classify them as ILD related to exposure/environment insults, ILD related to systemic and immunological diseases, ILD related to primary lung parenchyma dysfunctions and ILD specific to infancy. A growing part of the etiologic spectrum of chILD is being attributed to molecular defects. Currently, the main genetic mutations associated with chILD are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3 and NKX2-1. Other genetic contributors include mutations in MARS, CSF2RA and CSF2RB in pulmonary alveolar proteinosis, and mutations in TMEM173 and COPA in specific auto-inflammatory forms of chILD. However, only few genotype-phenotype correlations could be identified so far. Herein, information is provided about the clinical presentation and the diagnosis approach of chILD. Despite improvements in patient management, the therapeutic strategies are still relying mostly on corticosteroids although specific therapies are emerging. Larger longitudinal cohorts of patients are being gathered through ongoing international collaborations to improve disease knowledge and targeted therapies. Thus, it is expected that children with ILD will be able to reach the adulthood transition in a better condition. |
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Keywords: | ABCA3" },{" #name" :" keyword" ," $" :{" id" :" kw0010" }," $$" :[{" #name" :" text" ," _" :" ATP-Binding Cassette-Family A-Member 3 ACD/MPV" },{" #name" :" keyword" ," $" :{" id" :" kw0020" }," $$" :[{" #name" :" text" ," _" :" Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins AEC" },{" #name" :" keyword" ," $" :{" id" :" kw0030" }," $$" :[{" #name" :" text" ," _" :" Alveolar Epithelial Cells ANCA" },{" #name" :" keyword" ," $" :{" id" :" kw0040" }," $$" :[{" #name" :" text" ," _" :" Anti-Neutrophil Cytoplasmic Antibody ATS" },{" #name" :" keyword" ," $" :{" id" :" kw0050" }," $$" :[{" #name" :" text" ," _" :" American Thoracic Society BAL" },{" #name" :" keyword" ," $" :{" id" :" kw0060" }," $$" :[{" #name" :" text" ," _" :" Broncho Alveolar Lavage chILD" },{" #name" :" keyword" ," $" :{" id" :" kw0070" }," $$" :[{" #name" :" text" ," _" :" Children ILD COP" },{" #name" :" keyword" ," $" :{" id" :" kw0080" }," $$" :[{" #name" :" text" ," _" :" Coatomer Protein CTD" },{" #name" :" keyword" ," $" :{" id" :" kw0090" }," $$" :[{" #name" :" text" ," _" :" Connective Tissue Disease DAH" },{" #name" :" keyword" ," $" :{" id" :" kw0100" }," $$" :[{" #name" :" text" ," _" :" Diffuse Alveolar Hemorrhage DIP" },{" #name" :" keyword" ," $" :{" id" :" kw0110" }," $$" :[{" #name" :" text" ," _" :" Desquamative Interstitial Pneumonia DLCO" },{" #name" :" keyword" ," $" :{" id" :" kw0120" }," $$" :[{" #name" :" text" ," _" :" Lung Diffusing Capacity of Carbon monoxide ECM" },{" #name" :" keyword" ," $" :{" id" :" kw0130" }," $$" :[{" #name" :" text" ," _" :" Extra cellular matrix ERS" },{" #name" :" keyword" ," $" :{" id" :" kw0140" }," $$" :[{" #name" :" text" ," _" :" European Respiratory Society FRC" },{" #name" :" keyword" ," $" :{" id" :" kw0150" }," $$" :[{" #name" :" text" ," _" :" Functional Residual Capacity GER" },{" #name" :" keyword" ," $" :{" id" :" kw0160" }," $$" :[{" #name" :" text" ," _" :" Gastro Esophageal Reflux GMCSF" },{" #name" :" keyword" ," $" :{" id" :" kw0170" }," $$" :[{" #name" :" text" ," _" :" Granulocyte-Macrophage Colony-Stimulating Factor HP" },{" #name" :" keyword" ," $" :{" id" :" kw0180" }," $$" :[{" #name" :" text" ," _" :" Hypersensitivity Pneumonitis HRCT" },{" #name" :" keyword" ," $" :{" id" :" kw0190" }," $$" :[{" #name" :" text" ," _" :" High Resolution Computed Tomography ILD" },{" #name" :" keyword" ," $" :{" id" :" kw0200" }," $$" :[{" #name" :" text" ," _" :" Interstitial Lung Disease LIP" },{" #name" :" keyword" ," $" :{" id" :" kw0210" }," $$" :[{" #name" :" text" ," _" :" Lymphocytic Interstitial Pneumonia MARS" },{" #name" :" keyword" ," $" :{" id" :" kw0220" }," $$" :[{" #name" :" text" ," _" :" Methionyl-t-RNA Synthetase MDT" },{" #name" :" keyword" ," $" :{" id" :" kw0230" }," $$" :[{" #name" :" text" ," _" :" Multidisciplinary Team NEHI" },{" #name" :" keyword" ," $" :{" id" :" kw0240" }," $$" :[{" #name" :" text" ," _" :" NeuroEndocrine cell Hyperplasia of Infancy NKX2" },{" #name" :" keyword" ," $" :{" id" :" kw0250" }," $$" :[{" #name" :" text" ," _" :" NK2 Homeobox NSIP" },{" #name" :" keyword" ," $" :{" id" :" kw0260" }," $$" :[{" #name" :" text" ," _" :" Non-Specific Interstitial Pneumonia PIG" },{" #name" :" keyword" ," $" :{" id" :" kw0270" }," $$" :[{" #name" :" text" ," _" :" Pulmonary Interstitial Glycogenosis PAP" },{" #name" :" keyword" ," $" :{" id" :" kw0280" }," $$" :[{" #name" :" text" ," _" :" Pulmonary Alveolar Proteinosis RV" },{" #name" :" keyword" ," $" :{" id" :" kw0290" }," $$" :[{" #name" :" text" ," _" :" Residual Volume SaO2" },{" #name" :" keyword" ," $" :{" id" :" kw0300" }," $$" :[{" #name" :" text" ," _" :" Arterial Oxygen Saturation SAVI" },{" #name" :" keyword" ," $" :{" id" :" kw0310" }," $$" :[{" #name" :" text" ," _" :" STING-Associated Vasculopathy of Infancy SP" },{" #name" :" keyword" ," $" :{" id" :" kw0320" }," $$" :[{" #name" :" text" ," _" :" Surfactant Protein STING" },{" #name" :" keyword" ," $" :{" id" :" kw0330" }," $$" :[{" #name" :" text" ," _" :" Stimulator of Interferon Genes TGF" },{" #name" :" keyword" ," $" :{" id" :" kw0340" }," $$" :[{" #name" :" text" ," _" :" Transforming Growth Factor Th" },{" #name" :" keyword" ," $" :{" id" :" kw0350" }," $$" :[{" #name" :" text" ," _" :" T helpers TLC" },{" #name" :" keyword" ," $" :{" id" :" kw0360" }," $$" :[{" #name" :" text" ," _" :" Total Lung Capacity TLCO" },{" #name" :" keyword" ," $" :{" id" :" kw0370" }," $$" :[{" #name" :" text" ," _" :" Transfer Factor of Carbon monoxyde Treg" },{" #name" :" keyword" ," $" :{" id" :" kw0380" }," $$" :[{" #name" :" text" ," _" :" T regulatory VC" },{" #name" :" keyword" ," $" :{" id" :" kw0390" }," $$" :[{" #name" :" text" ," _" :" Vital Capacity |
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