title: Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia.
abstract: 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.
  
  
  
  To assess the clinical characteristics and disease progression in adults with PCD.
  
  
  
  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).
  
  
  
  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). FEV1was 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. FEV1decline 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.
  
  
  
  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.
authors.affiliation: Assistance publique-Hôpitaux de Paris, hôpital Cochin, Service de Pneumologie, Université Paris Descartes, Paris, France.|Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, DHU A-TVB, Université Paris Est Créteil, Créteil, France.
authors.forename: Justine
authors.initials: J
authors.lastname: Frija-Masson
authors.affiliation: Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, DHU A-TVB, Université Paris Est Créteil, Créteil, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Bassinet
authors.affiliation: Assistance publique-Hôpitaux de Paris, hôpital Cochin, Service de Pneumologie, Université Paris Descartes, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Honoré
authors.affiliation: CRCM adulte, hôpital Nord, Marseille, France.
authors.forename: Nadine
authors.initials: N
authors.lastname: Dufeu
authors.affiliation: Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, DHU A-TVB, Université Paris Est Créteil, Créteil, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Housset
authors.affiliation: Service d'ORL, hôpital intercommunal de Créteil, DHU A-TVB, Université Paris Est Créteil, France.
authors.forename: André
authors.initials: A
authors.lastname: Coste
authors.affiliation: Service d'ORL, hôpital intercommunal de Créteil, DHU A-TVB, Université Paris Est Créteil, France.|Assistance publique-Hôpitaux de Paris, hôpital de Bicêtre, Service d'ORL, Faculté de Médecine du Kremlin-Bicêtre, Université Paris Sud, Orsay, France.
authors.forename: Jean Francois
authors.initials: JF
authors.lastname: Papon
authors.affiliation: Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie-Paris 6, Paris , France.|Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Escudier
authors.affiliation: Assistance publique-Hôpitaux de Paris, hôpital Cochin, Service de Pneumologie, Université Paris Descartes, Paris, France.
authors.forename: Pierre-Régis
authors.initials: PR
authors.lastname: Burgel
authors.affiliation: Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, DHU A-TVB, Université Paris Est Créteil, Créteil, France.
authors.forename: Bernard
authors.initials: B
authors.lastname: Maître
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D001987:Bronchiectasis / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007619:Kartagener Syndrome / Q000503:physiopathology*; D008137:Longitudinal Studies; D008168:Lung / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012129:Respiratory Function Tests; D012189:Retrospective Studies; D012220:Rhinitis / Q000503:physiopathology; D012852:Sinusitis / Q000503:physiopathology
keywords: Bronchiectasis; Rare lung diseases