أعرض في EDS

Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations

التفاصيل البيبلوغرافية
العنوان: Heterogeneity Of Lung Disease Associated With Nk2 Homeobox 1 Mutations
المؤلفون: Emmanuelle Bosdure, Ralph Epaud, Raphael Borie, Elodie Nattes, Nadia Nathan, Antoine Deschildre, Juan E. Balinotti, Isabelle Gibertini, Caroline Thumerelle, Céline Delestrain, Véronique Houdouin, Pascale Fanen, Bruno Crestani, Alix de Becdelièvre, Ania Carsin, Remy Couderc, Stéphanie Lejeune, Sylvain Marchand-Adam, Malek Louha, Brigitte Fauroux, Benoît Funalot, Jean-Christophe Dubus
المساهمون: Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie A, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de compétence des maladies pulmonaires rares, Epicentre [Paris] [Médecins Sans Frontières], Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pédiatrie - Pneumologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de pneumologie [Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre de ressources et de compétences pour la mucoviscidose [Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de compétences pour les maladies pulmonaires rares, Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS), Unité Pneumologie Allergologie Pédiatrique [CHRU Lilles], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Centre de compétence des maladies pulmonaires rares, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], INSB-INSB-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), COMBE, Isabelle
المصدر: American Journal of Respiratory and Critical Care Medicine
American Journal of Respiratory and Critical Care Medicine, 2017, 195
Respiratory Medicine
Respiratory Medicine, Elsevier, 2017, 129, pp.16-23. ⟨10.1016/j.rmed.2017.05.014⟩
American Journal of Respiratory and Critical Care Medicine, American Thoracic Society, 2017, 195
بيانات النشر: HAL CCSD, 2017.
سنة النشر: 2017
مصطلحات موضوعية: Lung Diseases, Male, medicine.medical_treatment, Thyroid Nuclear Factor 1, Pulmonary function testing, 0302 clinical medicine, Interquartile range, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Child, Athetosis, ComputingMilieux_MISCELLANEOUS, Pulmonary Surfactant-Associated Protein B, medicine.diagnostic_test, Interstitial lung disease, Genes, Homeobox, respiratory system, Prognosis, 3. Good health, Respiratory Function Tests, medicine.anatomical_structure, Treatment Outcome, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Female, France, Pulmonary alveolar proteinosis, Bronchoalveolar Lavage Fluid, Pulmonary and Respiratory Medicine, Adult, High-resolution computed tomography, medicine.medical_specialty, Adolescent, Pulmonary Alveolar Proteinosis, 03 medical and health sciences, Chorea, Internal medicine, medicine, Congenital Hypothyroidism, Lung transplantation, Humans, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, Respiratory Distress Syndrome, Newborn, Lung, business.industry, Pulmonary Surfactants, medicine.disease, respiratory tract diseases, Surgery, 030228 respiratory system, Respiratory failure, Mutation, business, Lung Diseases, Interstitial, Tomography, X-Ray Computed, 030217 neurology & neurosurgery
الوصف: We retrospectively studied the clinical presentation, treatment modalities and outcome in 16 patients with heterozygous NKX2-1 mutation associated with chronic lung disease. Twelve different NKX2-1 mutations, including 4 novel mutations, were identified in the 16 patients. Nine patients presented with brain-lung-thyroid syndrome, 3 had neurological and lung symptoms and 4 had only pulmonary symptoms. Ten patients had neonatal respiratory distress, and 6 of them developed interstitial lung disease (ILD). The other patients were diagnosed with ILD in childhood (n = 3) or in adulthood (n = 3). The median age at diagnosis was 36 months (IQ 3.5–95). Patient testing included HRCT (n = 13), BALF analysis (n = 6), lung biopsies (n = 3) and lung function tests (n = 6). Six patients required supplemental oxygen support with a median duration of 18 months (IQ 2.5–29). All symptomatic ILD patients (n = 12) benefited from a treatment consisting of steroids, azithromycin (n = 9), and/or hydroxychloroquine (n = 4). The median follow-up was 36 months (IQ 24–71.5). One patient died of respiratory failure at 18 months and another is waiting for lung transplantation. In summary, the initial diagnosis was based on clinical presentation and radiological features, but the presentation was heterogeneous. Definitive diagnosis required genetic analysis, which should be performed, even in absence of neurological or thyroid symptoms.
اللغة: English
تدمد: 1073-449X
1535-4970
0954-6111
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee5cc24d14d5b24d51cf0eb3523271bTest
https://hal.science/hal-01774341Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....1ee5cc24d14d5b24d51cf0eb3523271b
قاعدة البيانات: OpenAIRE
الوصف
تدمد:1073449X
15354970
09546111