Abstract
Introduction: In France rare orphan diseases as pediatric interstitial lung diseases (ILDs) have been identified as a public health priority. A national pediatric reference center for rare lung diseases, RespiRare, was created several years ago.
Objective: To investigate the prevalence and the expression of pediatric ILDs within a national cohort in France.
Methods: Children presenting with ILD from 1995 to 2010 were identified through the RespiRare network. Clinical, radiological, functional, pathological, biological and genetical longitudinal data were collected by the physicians in charge of ILDs patients using a unique national biomedical database.
Results: Data were available for 197 children presenting with ILD. The mean incidence was 26/year. Median age at diagnosis was 20 months [0-16 years], and the sex ratio was 0.87 male/female. Investigations including thoracic high resolution computed tomography scan (n=197), broncho-alveolar lavages (n=97), lung biopsies (n=30) and analysis of surfactant genes (n=67) led to a diagnosis for 142 out of the 197 children (63.4%): surfactant mutation associated disorders (n=29, 14.7%), haemosiderosis (n=24, 12.2%), sarcoidosis (n=20, 10.2%) and alveolar protéinosis (n=17, 8.6%) were the most common diagnoses. Pulmonary hypertension was observed in 16% cases at diagnosis.
Conclusion: A national database is now used in France for pediatric ILDs and facilitates clinical studies. Based on this experience, recommendations for diagnosis and therapeutic strategies are being established. As a European ILDs consortium is emerging, a European ILDs registry would be the next step to improve the knowledge of pediatric ILDs pathophysiology and their management.
- © 2011 ERS