ABCA3-related interstitial lung disease beyond infancy

BackgroundThe 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 regist...

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Published in	Thorax Vol. 78; no. 6; pp. 587 - 595
Main Authors	Li, Yang, Seidl, Elias, Knoflach, Katrin, Gothe, Florian, Forstner, Maria Elisabeth, Michel, Katarzyna, Pawlita, Ingo, Gesenhues, Florian, Sattler, Franziska, Yang, Xiaohua, Kroener, Carolin, Reu-Hofer, Simone, Ley-Zaporozhan, Julia, Kammer, Birgit, Krüger-Stollfuß, Ingrid, Dinkel, Julien, Carlens, Julia, Wetzke, Martin, Moreno-Galdó, Antonio, Torrent-Vernetta, Alba, Lange, Joanna, Krenke, Katarzyna, Rumman, Nisreen, Mayell, Sarah, Sismanlar, Tugba, Aslan, Ayse, Regamey, Nicolas, Proesmans, Marijke, Stehling, Florian, Naehrlich, Lutz, Ayse, Kilinc, Becker, Sebastian, Koerner-Rettberg, Cordula, Plattner, Erika, Manali, Effrosyni D, Papiris, Spyridon A, Campo, Ilaria, Kappler, Matthias, Schwerk, Nicolaus, Griese, Matthias
Format	Journal Article
Language	English
Published	England BMJ Publishing Group Ltd and British Thoracic Society 01.06.2023 BMJ Publishing Group LTD BMJ Publishing Group
Subjects	ABCA3 Adolescent Age ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism Child Children & youth Cohort Studies Genotype & phenotype Humans Infant Lung - metabolism Lung diseases Lung Diseases, Interstitial - diagnosis Lung Diseases, Interstitial - genetics Lung Diseases, Interstitial - therapy Lung transplants Mutation Orphan Lung Disease paediatric interstitial lung disease Patients Pediatrics Proteins rare lung diseases Surfactants Survival analysis Tomography, X-Ray Computed rare lung diseases paediatric interstitial lung disease ABCA3
Online Access	Get full text
ISSN	0040-6376 1468-3296 1468-3296
DOI	10.1136/thorax-2022-219434

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Abstract	BackgroundThe 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.MethodOver 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.ResultsAt 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.ConclusionThe natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course.
AbstractList	BackgroundThe 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.MethodOver 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.ResultsAt 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.ConclusionThe natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course. 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.BACKGROUNDThe 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.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.METHODOver 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.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.RESULTSAt 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.The natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course.CONCLUSIONThe natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course. 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. 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. 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 sequence variants were missense variants, small insertions or deletions with in-silico tools predicting some residual ABCA3 transporter function. The natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course.
Author	Reu-Hofer, Simone Aslan, Ayse Lange, Joanna Plattner, Erika Torrent-Vernetta, Alba Manali, Effrosyni D Krenke, Katarzyna Pawlita, Ingo Sismanlar, Tugba Regamey, Nicolas Krüger-Stollfuß, Ingrid Kammer, Birgit Kappler, Matthias Griese, Matthias Michel, Katarzyna Yang, Xiaohua Carlens, Julia Moreno-Galdó, Antonio Kroener, Carolin Stehling, Florian Campo, Ilaria Schwerk, Nicolaus Gothe, Florian Sattler, Franziska Koerner-Rettberg, Cordula Dinkel, Julien Proesmans, Marijke Papiris, Spyridon A Mayell, Sarah Forstner, Maria Elisabeth Ayse, Kilinc Wetzke, Martin Becker, Sebastian Knoflach, Katrin Ley-Zaporozhan, Julia Seidl, Elias Li, Yang Gesenhues, Florian Rumman, Nisreen Naehrlich, Lutz
AuthorAffiliation	1 Department of Pediatrics , Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-University , Munich , Germany 12 Regional Paediatric CF Centre , Alder Hey Children's Hospital , Liverpool , UK 11 Department of Pediatrics , Makassed Charitable Society Hospital , East Jerusalem , Palestine 18 Cerrahpassa University , Istanbul , Turkey 9 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 22 2nd Pulmonary Medicine Department , National and Kapodistrian University of Athens, Medical School, "ATTIKON" University Hospital , Haidari , Greece 10 Department of Pediatric Pneumonology and Allergy , Medical University of Warsaw , Warsaw , Poland 5 Department of Radiology, Pediatric Radiology , University Hospital, Ludwig-Maximilians-Universität Munich , Munich , Germany 8 Department of
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BackLink	https://www.ncbi.nlm.nih.gov/pubmed/36808083$$D View this record in MEDLINE/PubMed
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DOI	10.1136/thorax-2022-219434
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Keywords	rare lung diseases paediatric interstitial lung disease ABCA3
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childhood in Japan publication-title: Pediatr Res doi: 10.1038/pr.2014.114 – ident: 2024051320335987000_78.6.587.34 doi: 10.1038/nmeth0410-248 – ident: 2024051320335987000_78.6.587.9 doi: 10.1093/hmg/ddr508 – ident: 2024051320335987000_78.6.587.36 doi: 10.1148/radiol.2462070712 – volume: 53 start-page: E12 year: 2018 ident: 2024051320335987000_78.6.587.23 article-title: Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: a case report publication-title: Pediatr Pulmonol doi: 10.1002/ppul.23994 – ident: 2024051320335987000_78.6.587.5 doi: 10.1136/thx.2007.083766 – ident: 2024051320335987000_78.6.587.22 doi: 10.1002/ppul.23260 – ident: 2024051320335987000_78.6.587.30 doi: 10.1164/rccm.201305-0923ST
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Snippet	BackgroundThe majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3... The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3)...
SourceID	pubmedcentral proquest pubmed crossref bmj
SourceType	Open Access Repository Aggregation Database Index Database Enrichment Source Publisher
StartPage	587
SubjectTerms	ABCA3 Adolescent Age ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism Child Children & youth Cohort Studies Genotype & phenotype Humans Infant Lung - metabolism Lung diseases Lung Diseases, Interstitial - diagnosis Lung Diseases, Interstitial - genetics Lung Diseases, Interstitial - therapy Lung transplants Mutation Orphan Lung Disease paediatric interstitial lung disease Patients Pediatrics Proteins rare lung diseases Surfactants Survival analysis Tomography, X-Ray Computed
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Title	ABCA3-related interstitial lung disease beyond infancy
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