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Orphan lung disease
Original article
Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia
  1. Justine Frija-Masson1,2,
  2. Laurence Bassinet2,
  3. Isabelle Honoré1,
  4. Nadine Dufeu3,
  5. Bruno Housset2,
  6. André Coste4,
  7. Jean Francois Papon4,5,
  8. Estelle Escudier6,7,
  9. Pierre-Régis Burgel1,
  10. Bernard Maître2
  1. 1Assistance publique–Hôpitaux de Paris, hôpital Cochin, Service de Pneumologie, Université Paris Descartes, Paris, France
  2. 2Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, DHU A-TVB, Université Paris Est Créteil, Créteil, France
  3. 3CRCM adulte, hôpital Nord, Marseille, France
  4. 4Service d'ORL, hôpital intercommunal de Créteil, DHU A-TVB, Université Paris Est Créteil, France
  5. 5Assistance publique–Hôpitaux de Paris, hôpital de Bicêtre, Service d'ORL, Faculté de Médecine du Kremlin-Bicêtre, Université Paris Sud, Orsay, France
  6. 6Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie—Paris 6, Paris , France
  7. 7Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique—Hôpitaux de Paris, Paris, France
  1. Correspondence to Professor Bernard Maître, Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, Créteil 94000, France; bm.maitre{at}gmail.com

Abstract

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.

  • Bronchiectasis
  • Rare lung diseases

https://doi.org/10.1136/thoraxjnl-2015-207891

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    Footnotes

    • Contributors JF-M and BM had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. BM, JF-M, IH and LB designed the research. JF-M, LB, IH, ND, AC, JFP and EE contributed to the acquisition of data. BM, JF-M, LB, IH and BH analysed the results and made the figures. BM, JF-M, LB, IH, BH, AC, JFP, EE and P-RB wrote the paper.

    • Competing interests None declared.

    • Ethics approval Institutional Review Board of the Société de Pneumologie de Langue Francaise.

    • Provenance and peer review Not commissioned; externally peer reviewed.