Justine Frija-Masson1,2, Laurence Bassinet2, Isabelle Honoré1, Nadine Dufeu3, Bruno Housset2, André Coste4, Jean Francois Papon4,5, Estelle Escudier6,7, Pierre-Régis Burgel1, Bernard Maître2. 1. Assistance publique-Hôpitaux de Paris, hôpital Cochin, Service de Pneumologie, Université Paris Descartes, Paris, France. 2. Centre Hospitalier Intercommunal de Créteil, Service de Pneumologie et de Pathologie Professionnelle, DHU A-TVB, Université Paris Est Créteil, Créteil, France. 3. CRCM adulte, hôpital Nord, Marseille, France. 4. Service d'ORL, hôpital intercommunal de Créteil, DHU A-TVB, Université Paris Est Créteil, France. 5. Assistance publique-Hôpitaux de Paris, hôpital de Bicêtre, Service d'ORL, Faculté de Médecine du Kremlin-Bicêtre, Université Paris Sud, Orsay, France. 6. Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie-Paris 6, Paris , France. 7. Service de Génétique et Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France.
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.
Authors: Laurie J Smith; Noreen West; David Hughes; Helen Marshall; Christopher S Johns; Neil J Stewart; Ho-Fung Chan; Madhwesha Rao; David J Capener; Jody Bray; Guilhem J Collier; Paul J C Hughes; Graham Norquay; Lynne Schofield; Phil Chetcuti; Eduardo Moya; Jim M Wild Journal: Ann Am Thorac Soc Date: 2018-12
Authors: Jessica Rademacher; Sabine Dettmer; Jan Fuge; Jens Vogel-Claussen; Hoen-Oh Shin; Anand Shah; Paula Inês Pedro; Rob Wilson; Tobias Welte; Frank Wacker; Michael R Loebinger; Felix C Ringshausen Journal: Respiration Date: 2021-04-23 Impact factor: 3.580