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Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.
- Source :
-
Respiratory medicine [Respir Med] 2017 Aug; Vol. 129, pp. 16-23. Date of Electronic Publication: 2017 May 26. - Publication Year :
- 2017
-
Abstract
- 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 infiltrative 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.<br /> (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Subjects :
- Adolescent
Adult
Athetosis complications
Athetosis genetics
Athetosis pathology
Bronchoalveolar Lavage Fluid chemistry
Child
Chorea complications
Chorea genetics
Chorea pathology
Congenital Hypothyroidism complications
Congenital Hypothyroidism genetics
Congenital Hypothyroidism pathology
Female
France epidemiology
Genes, Homeobox
Humans
Lung Diseases complications
Lung Diseases therapy
Lung Diseases, Interstitial complications
Lung Diseases, Interstitial diagnostic imaging
Lung Diseases, Interstitial physiopathology
Lung Diseases, Interstitial therapy
Male
Mutation
Prognosis
Pulmonary Alveolar Proteinosis complications
Pulmonary Surfactant-Associated Protein B genetics
Pulmonary Surfactants metabolism
Respiratory Distress Syndrome, Newborn complications
Respiratory Distress Syndrome, Newborn etiology
Respiratory Distress Syndrome, Newborn genetics
Respiratory Distress Syndrome, Newborn pathology
Respiratory Function Tests methods
Retrospective Studies
Tomography, X-Ray Computed
Treatment Outcome
Lung Diseases genetics
Lung Diseases pathology
Lung Diseases, Interstitial genetics
Pulmonary Alveolar Proteinosis genetics
Pulmonary Surfactant-Associated Protein B deficiency
Thyroid Nuclear Factor 1 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1532-3064
- Volume :
- 129
- Database :
- MEDLINE
- Journal :
- Respiratory medicine
- Publication Type :
- Academic Journal
- Accession number :
- 28732825
- Full Text :
- https://doi.org/10.1016/j.rmed.2017.05.014