TY - JOUR T1 - The French national cohort of children with primary ciliary dyskinesia JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - P1242 AU - Guillaume Thouvenin AU - Jacques de Blic AU - Ralph Epaud AU - Jean-François Papon AU - Antoine Deschildre AU - Philippe Reix AU - Sylvain Blanchon AU - Véronique Houdouin AU - Katia Bessaci AU - Julie Beucher AU - Michael Fayon AU - Céline Menetrey AU - Jacques Brouard AU - Isabelle Pin AU - Isabelle Gibertini AU - Malika Mahloul AU - Delphine Michon AU - Laurie Galeron AU - Annick Clément AU - Aline Tamalet Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/P1242.abstract N2 - Introduction: In France, orphan diseases such as Primary Ciliary Dyskinesia (PCD) have been identified as a Public Health priority. As a result, RespiRare®, a national pediatric reference network for rare lung diseases, was created in 2006. Objective: To investigate the prevalence and phenotypic data of pediatric PCD of the French national registry. Methods: Children presenting with PCD were identified through the RespiRare® network. Longitudinal clinical, radiological, functional, histological, biological and genetic data were collected by the physicians in charge of these PCD patients using a dedicated national biomedical database. Results: Data were available for 298 patients with highly suspected or confirmed PCD. Median age of patients was 15.4 years. The male/female sex ratio was 1.1. PCD was confirmed in 200 cases. Data on diagnosis criteria were available for 210 (70.5%) patients, as followed: typical Kartagener syndrome (n=153, 51.3%), and/or structural abnormalities on electron microscopy (n=174, 58.4%) and/or bi-allelic mutations in PCD genes (n=112, 37.6%). Structural abnormalities included outer dynein arm deficiency (n=94), inner dynein arm deficiency (n=54), absence of the central microtubular pair (n=34) or absence of the nexin links (n=11). Others diagnostic methods included nasal NO measurements (n=59) and ciliary beat frequency evaluations (n=109). Follow-up investigations included thoracic HRCT scans (n=211), lung functional testings (n=698), and sputum analysis. Conclusion: In France, a national database is now used for the follow-up of pediatric PCD. This registry will facilitate future clinical studies and provides an essential basis for a competitive project with international teams. ER -