ABCA3-related interstitial lung disease beyond infancy
Li, Yang (Ludwig-Maximilians-University (Munich, Alemanya))
Seidl, Elias (Ludwig-Maximilians-University (Munich, Alemanya))
Knoflach, Katrin (Ludwig-Maximilians-University (Munich, Alemanya))
Gothe, Florian (Ludwig-Maximilians-University (Munich, Alemanya))
Forstner, Maria Elisabeth (Ludwig-Maximilians-University (Munich, Alemanya))
Michel, Katarzyna (Ludwig-Maximilians-University (Munich, Alemanya))
Pawlita, Ingo (Ludwig-Maximilians-University (Munich, Alemanya))
Gesenhues, Florian (Ludwig-Maximilians-University (Munich, Alemanya))
Sattler, Franziska (Ludwig-Maximilians-University (Munich, Alemanya))
Yang, Xiaohua (Ludwig-Maximilians-University (Munich, Alemanya))
Kroener, Carolin (Ludwig-Maximilians-University (Munich, Alemanya))
Reu-Hofer, Simone (Julius-Maximilians-Universität Würzburg)
Ley-Zaporozhan, Julia (Ludwig-Maximilians-University (Munich, Alemanya))
Kammer, Birgit (Ludwig-Maximilians-University (Munich, Alemanya))
Krüger-Stollfuß, Ingrid (Ludwig-Maximilians-University (Munich, Alemanya))
Dinkel, Julien (Ludwig-Maximilians-University (Munich, Alemanya))
Carlens, Julia (Hannover Medical School)
Wetzke, Martin (Hannover Medical School)
Moreno Galdó, Antonio (Hospital Universitari Vall d'Hebron)
Torrent-Vernetta, Alba (Hospital Universitari Vall d'Hebron)
Lange, Joanna (Medical University of Warsaw)
Krenke, Katarzyna (Medical University of Warsaw)
Rumman, Nisreen (Makassed Charitable Society Hospital (East Jerusalem, Palestina))
Mayell, Sarah (Alder Hey Children's Hospital (Regne Unit))
Sismanlar, Tugba (Gazi University Faculty of Medicine (Ankara, Turquia))
Aslan, Ayse (Gazi University Faculty of Medicine (Ankara, Turquia))
Regamey, Nicolas (Children's Hospital (Luzern, Suïssa))
Proesmans, Marijke (UZ Leuven)
Stehling, Florian (University Hospital Essen (Alemanya))
Naehrlich, Lutz (Justus-Liebig-University Giessen)
Ayse, Kilinc (Cerrahpassa University (Istanbul, Turquia))
Becker, Sebastian (Darmstädter Kinderkliniken Prinzessin Margaret (Darmstadt, Alemanya))
Koerner-Rettberg, Cordula (Marien-Hospital Wesel gGmbH)
Plattner, Erika (Universitätsklinikum Erlangen)
Manali, Effrosyni D. (National and Kapodistrian University of Athens)
Papiris, Spyridon A. (National and Kapodistrian University of Athens)
Campo, Ilaria (Fondazione IRCCS Policlinico San Matteo (Itàlia))
Kappler, Matthias (German Center for Lung Research (DZL))
Schwerk, Nicolaus (Hannover Medical School)
Griese, Matthias (Ludwig-Maximilians-University (Munich, Alemanya))
Universitat Autònoma de Barcelona

Data:	2023
Resum:	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 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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	ABCA3 ; Rare lung diseases ; Paediatric interstitial lung disease
Publicat a:	Thorax, Vol. 78 (february 2023) , p. 587-595, ISSN 1468-3296

DOI: 10.1136/thorax-2022-219434
PMID: 36808083

9 p, 4.7 MB

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