Update of Respiratory Tract Disease in Children with Primary Ciliary Dyskinesia

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. This review summarizes the current state of knowledge of respiratory tract disease in individuals with PCD and highlights the challenges in identifying and quantifying lung disease in very young children with PCD. No specific therapies are available to correct ciliary dysfunction in PCD. Treatment is not evidence based, and recommendations are largely extrapolated from cystic fibrosis and other conditions with impaired mucociliary clearance. There is a pressing need to develop and validate outcome measures, including patient-reported outcomes, that could be used to evaluate potential therapies in PCD. This review concludes with recommendations for clinical endpoints and outcome measures and a prioritized list of treatments to study in PCD clinical trials.

Non-diluted seawater enhances nasal ciliary beat frequency and wound repair speed compared to diluted seawater and normal saline

“…Pathogens targeting the airway like Pseudomonas aeruginosa , Streptococcus pneumoniae , or Haemophilus influenzae produce various cilio‐inhibitory factors 9, 10, 11, 12. This is clearly illustrated in cystic fibrosis or primary ciliary dyskinesia in which the impaired ciliary beat and/or thicker mucus result in a defective mucociliary clearance that may participate in repeated lung infections and pathophysiology 13, 14, 15, 16. It is thus important to restore an efficient ciliary beat to ensure the protective role of the respiratory mucosa.…”

Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy

“…The ultimate solution for a completely destroyed and infected lobe is resection 20 . The Haemophilus influenzae is the most isolated germ during lung infections 5,6 , as in this study. It was confirmed also in a recent European multicenter study enrolling 158 children with PDC.…”

“…The prognosis is variable. However, it is known to be better than the CF one 5,6 . In Tunisia, PCD is under-diagnosed.…”

Mucociliary clearance: pathophysiological aspects

“…permanent defects of mucociliary clearance (Sagel et al, 2011). At least partially, this is thought to be a result of mucus plugs blocking smaller airways thereby creating a local environment that promotes bacterial growth (Worlitzsch et al, 2002;Livraghi & Randell, 2007).…”

“…As a respond to this constant threat of inflammation and infection the airways have evolved different innate defence mechanisms (Wanner et al, 1996). Mucociliary clearance is known to be of particular importance in this first line of defence, which becomes clearly evident in patients with defects related to this system such as patients with cystic fibrosis or primary ciliary dyskinesia as these patients typically present themselves with recurrent infections of the airways (Robinson et al, 2000;Knowles & Boucher, 2002;Sagel et al, 2011). In recent years, our understanding of the composition and function of this important defence mechanism has grown, and possible ways to evaluate as well as enhance mucociliary clearance are currently being investigated.…”