%0 Journal Article %T Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia %+ Service de pneumologie [CHU Cochin] %+ CHI Créteil %+ Centre de Recherche en Cancérologie de Marseille (CRCM) %+ Service d'ORL [Créteil] %+ Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre] %+ Physiopathologie des maladies génétiques d'expression pédiatrique %+ CHU Trousseau [APHP] %A Frija-Masson, Justine %A Bassinet, Laurence %A Honoré, Isabelle %A Dufeu, Nadine %A Housset, Bruno %A Coste, André %A Papon, Jean Francois %A Escudier, Estelle %A Burgel, Pierre-Régis %A Maître, Bernard %< avec comité de lecture %@ 0040-6376 %J Thorax %I BMJ Publishing Group %V 72 %N 2 %P 154-160 %8 2017-01-13 %D 2017 %R 10.1136/thoraxjnl-2015-207891 %M 27382041 %K Bronchiectasis %K Rare lung diseases %Z Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract %Z Life Sciences [q-bio] %Z Life Sciences [q-bio]/Genetics/Human geneticsJournal articles %X Introduction: Primary ciliary dyskinesia (PCD) is a genetic disease characterised by abnormalities in ciliary function, responsible for chronic pulmonary and sinonasal diseases. Adult clinical features and outcome are poorly described.Objectives: To assess the clinical characteristics and disease progression in adults with PCD.Methods: Bicentric retrospective study, focusing on adults (≥18 years) with an asserted diagnosis of PCD based on the presence of bronchiectasis with typical ultrastructural defect of cilia and/or situs inversus (SI). Clinical symptoms, respiratory function, extent of bronchiectasis, microbiology and molecular analysis were assessed. Results are expressed as median (25th; 75th centile).Results: 78 patients were included with a median follow-up of 8.1 years. 91% of patients had respiratory symptoms and 95% had chronic rhinosinusitis. Half of ultrastructural defects concerned dynein arms. Respiratory function was significantly lower in women (FEV1=60% predicted (50; 76), vs 77% (62; 95), p=0.009) and in patients with chronic airway Pseudomonas aeruginosa (PA, n=21) infection (FEV1=60% (48; 71) vs 75% (55; 89), p=0.04). FEV1 was associated with gender (regression coefficient for men =13.8, p=0.009), chest CT score (r=-0.42, p<0.001) but not with age at diagnosis, SI or body mass index. FEV1 decline was -13.4 mL/year (-42.8; +11.9) and was greater in women (-29.3 mL/year, (-59.7; -11.9), vs -2.0 mL/year (-26.9; +25.4), p=0.002). Three patients had severe respiratory failure.Conclusions: Alteration of respiratory function in adults with PCD is heterogeneous and usually moderate but appears more severe in women and in patients with chronic PA infection. Only 4% of patients develop chronic respiratory failure. %G English %L inserm-03875594 %U https://inserm.hal.science/inserm-03875594 %~ INSERM %~ UPMC %~ CNRS %~ UNIV-AMU %~ APHP %~ U933 %~ UPMC_POLE_4 %~ SORBONNE-UNIVERSITE %~ CRCM %~ SU-INF-2018 %~ SU-MEDECINE %~ SU-MED %~ SU-TI %~ ALLIANCE-SU