RT Journal Article
SR Electronic
T1 Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 154
OP 160
DO 10.1136/thoraxjnl-2015-207891
VO 72
IS 2
A1 Justine Frija-Masson
A1 Laurence Bassinet
A1 Isabelle Honoré
A1 Nadine Dufeu
A1 Bruno Housset
A1 André Coste
A1 Jean Francois Papon
A1 Estelle Escudier
A1 Pierre-Régis Burgel
A1 Bernard Maître
YR 2017
UL http://thorax.bmj.com/content/72/2/154.abstract
AB 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.