ABCA3-related interstitial lung disease beyond infancy.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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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
Аннотация
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.