ABCA3-related interstitial lung disease beyond infancy.

Autor:	Li Y; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany.; Medical college, Chongqing University, Chongqing, China., Seidl E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Gothe F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Forstner ME; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Michel K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Pawlita I; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Gesenhues F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Sattler F; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Yang X; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Kroener C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Reu-Hofer S; Department of Pathology, Würzburg University, Würzburg, Germany., Ley-Zaporozhan J; Department of Radiology, Pediatric Radiology, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Kammer B; Department of Radiology, Pediatric Radiology, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Krüger-Stollfuß I; Department of Radiology, Pediatric Radiology, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Dinkel J; German Center for Lung Research (DZL), Munich, Germany.; Department of Radiology, Pediatric Radiology, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Carlens J; Department of Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hanover, Germany.; German Center for Lung Research (DZL), BREATH Hannover, Hanover, Germany., Wetzke M; German Center for Lung Research (DZL), BREATH Hannover, Hanover, Germany.; Department of Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany., Moreno-Galdó A; Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain and CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Torrent-Vernetta A; Department of Pediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona, Spain and CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Lange J; Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland., Krenke K; Department of Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Poland., Rumman N; Department of Pediatrics, Makassed Charitable Society Hospital, East Jerusalem, Palestine., Mayell S; Regional Paediatric CF Centre, Alder Hey Children's Hospital, Liverpool, UK., Sismanlar T; Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey., Aslan A; Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey., Regamey N; Pediatric Respiratory Medicine, Children's Hospital, Luzern, Switzerland., Proesmans M; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Stehling F; Children's Hospital, Department of Pneumology, University Hospital Essen, Essen, Germany., Naehrlich L; Department of Pediatrics, Justus-Liebig-University Giessen, German Center for Lung Research, Justus-Liebig-University Giessen, Giessen, Germany., Ayse K; Cerrahpassa University, Istanbul, Turkey., Becker S; Darmstädter Kinderkliniken Prinzessin Margaret, Darmstadt, Germany., Koerner-Rettberg C; Children's Hospital, Marien-Hospital Wesel gGmbH, Wesel, Germany., Plattner E; Universitätsklinikum Erlangen, Children's Hospital, Erlangen, Germany., Manali ED; 2nd Pulmonary Medicine Department, National and Kapodistrian University of Athens, Medical School, 'ATTIKON' University Hospital, Haidari, Greece., Papiris SA; 2nd Pulmonary Medicine Department, National and Kapodistrian University of Athens, Medical School, 'ATTIKON' University Hospital, Haidari, Greece., Campo I; SC Pneumologia - Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Kappler M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany.; German Center for Lung Research (DZL), Munich, Germany., Schwerk N; German Center for Lung Research (DZL), BREATH Hannover, Hanover, Germany.; Department of Pediatric Pulmonology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany., Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University, Munich, Germany matthias.griese@med.uni-muenchen.de.; German Center for Lung Research (DZL), Munich, Germany.
Jazyk:	angličtina
Zdroj:	Thorax [Thorax] 2023 Jun; Vol. 78 (6), pp. 587-595. Date of Electronic Publication: 2023 Feb 20.
DOI:	10.1136/thorax-2022-219434
Abstrakt:	Background: The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succumb to disease if not lung transplanted. This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year. Method: Over a 21-year period, patients diagnosed as chILD due to ABCA3 deficiency were identified from the Kids Lung Register database. 44 patients survived beyond the first year of life and their long-term clinical course, oxygen supplementation and pulmonary function were reviewed. Chest CT and histopathology were scored blindly. Results: At the end of the observation period, median age was 6.3 years (IQR: 2.8-11.7) and 36/44 (82%) were still alive without transplantation. Patients who had never received supplemental oxygen therapy survived longer than those persistently required oxygen supplementation (9.7 (95% CI 6.7 to 27.7) vs 3.0 years (95% CI 1.5 to 5.0), p = 0.0126). Interstitial lung disease was clearly progressive over time based on lung function (forced vital capacity % predicted absolute loss -1.1% /year) and on chest CT (increasing cystic lesions in those with repetitive imaging). Lung histology pattern were variable (chronic pneumonitis of infancy, non-specific interstitial pneumonia, and desquamative interstitial pneumonia). In 37/44 subjects, the ABCA3 sequence variants were missense variants, small insertions or deletions with in-silico tools predicting some residual ABCA3 transporter function. Conclusion: The natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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