1. Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia
- Author
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L. Bassinet, André Coste, N. Dufeu, Bernard Maitre, Justine Frija-Masson, Pierre-Régis Burgel, Jean Francois Papon, Bruno Housset, Estelle Escudier, Isabelle Honoré, Service de pneumologie [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHI Créteil, Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'ORL [Créteil], Centre Hospitalier Intercommunal de Créteil (CHIC), Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Couvet, Sandrine, Service de génétique et embryologie médicales [CHU Trousseau], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
- Subjects
Male ,MESH: Bronchiectasis ,Biopsy ,[SDV]Life Sciences [q-bio] ,MESH: Respiratory Function Tests ,Disease ,[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract ,Gastroenterology ,MESH: Biopsy ,0302 clinical medicine ,Medicine ,Respiratory function ,Longitudinal Studies ,030212 general & internal medicine ,Respiratory system ,MESH: Longitudinal Studies ,Lung ,Rhinitis ,Primary ciliary dyskinesia ,MESH: Aged ,MESH: Middle Aged ,MESH: Rhinitis ,MESH: Follow-Up Studies ,Middle Aged ,Respiratory Function Tests ,Bronchiectasis ,[SDV] Life Sciences [q-bio] ,Phenotype ,Disease Progression ,Female ,MESH: Disease Progression ,Adult ,Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Adolescent ,MESH: Sinusitis ,Rare lung diseases ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,MESH: Phenotype ,03 medical and health sciences ,Internal medicine ,Humans ,MESH: Lung ,Sinusitis ,Aged ,Retrospective Studies ,MESH: Adolescent ,MESH: Humans ,Kartagener Syndrome ,business.industry ,MESH: Adult ,MESH: Retrospective Studies ,Retrospective cohort study ,medicine.disease ,MESH: Male ,Surgery ,Situs inversus ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,030228 respiratory system ,Respiratory failure ,[SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract ,MESH: Kartagener Syndrome ,business ,MESH: Female ,Follow-Up Studies - Abstract
International audience; 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
- Published
- 2016
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