SECTION SHORT ANSWER
Advances and Answers in Pediatric Health
Clearing the Airways
PULMONOLOGY
Primary ciliary dyskinesia ( PCD ) is a rare genetic disorder that impairs the functioning of cilia , hair-like structures that line the airways . It affects the movement of mucus , leading to chronic ear , sinus and lung infections . Patients with PCD suffer from respiratory problems such as coughing , wheezing , shortness of breath and bronchiectasis . Until now , treatment has focused on managing the symptoms of the disease . But a recent study published in the Annals of the American Thoracic Society has uncovered new information that could lead to better therapies for the disorder .
The study , led by Scott Sagel , MD , PhD , a pediatric pulmonologist at Children ’ s Hospital Colorado , and made possible by the National Institutes of Health-funded Genetic Disorders of Mucociliary Clearance Consortium and the Colorado Clinical and Translational Sciences Institute at the University of Colorado School of Medicine , investigated the relationship between airway inflammation and lung disease in children with PCD .
Using a multicenter cohort of children with PCD , researchers focused on three areas of investigation : if measurements of airway inflammation are linked to lung function , bronchiectasis and airway infections ; differences in inflammatory measurements between categories of ciliary ultrastructural defects ; and sputum inflammatory measurements in children with PCD compared with children with cystic fibrosis ( CF ) — a similar lung disease . in their airways , which were associated with impaired lung function and structural lung damage . Also , children with detectable bacterial pathogens in their mucus had greater inflammation compared to those without detectable bacteria .
The results demonstrate that increased airway inflammation is a characteristic feature in children and adolescents with PCD and linked with lung disease . This suggests that inflammation might be a treatment target in PCD clinical trials and that sputum measurements of inflammation can be used to assess the efficacy of anti-inflammatory therapies .
The findings of this study are significant , as they pave the way for better treatments for a rare disease that has thus far had few disease-specific options . By identifying the role of airway inflammation in lung disease for children with PCD , researchers can now test anti-inflammatory drugs to treat this aspect of the disorder . This is a promising development for the PCD community , and it demonstrates the value of investing in research into rare diseases . •
SCOTT SAGEL , MD , PHD
Director of the Mike McMorris Cystic Fibrosis Research and Care Center , Children ’ s Hospital Colorado
Professor , Pediatrics-Pulmonary Medicine , University of Colorado School of Medicine
Dr . Sagel and his team found that children and adolescents with PCD had elevated concentrations of proteins that indicate inflammation
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