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Children with primary ciliary dyskinesia (PCD), a rare genetic disorder that impacts airway function, are significantly more likely to develop asthma compared to their peers, a new study from Indiana University School of Medicine reveals. The study, published in JAMA Network Open, calls attention to the crucial need for routine asthma screening in children diagnosed with PCD and suggests that some asthma cases may actually be linked to undiagnosed PCD.
PCD is a genetic disorder affecting an estimated 1 in 10,000 to 30,000 people in the United States. It impacts the cilia, tiny hair-like structures lining the airways that are responsible for clearing mucus. This dysfunction leads to chronic respiratory issues, increased risk of infections, and difficulty breathing.
Benjamin Gaston, MD, the Billie Lou Wood Professor of Pediatrics at the IU School of Medicine, who co-led the research, stated, “The connection between PCD and asthma has not previously received much attention. Our data analysis revealed an undeniable link, showing children with PCD were 22 times more likely to have asthma compared to children without PCD characteristics.”
Gaston, alongside Arthur Owora, Ph.D., MPH, associate professor of pediatrics at the IU School of Medicine, and other collaborators from the Mayo Clinic and Case Western Reserve University, analyzed pediatric records from two extensive health databases: the Indiana Network for Patient Care Research and TriNetX. They compared data from children diagnosed with bronchiectasis and situs inversus totalis, conditions commonly associated with PCD, against a control group of children without PCD.
The study found a significantly higher prevalence of asthma among children with PCD, reinforcing the idea that asthma may not be a simple standalone condition in these children but could be related to underlying airway dysfunction from PCD. Additionally, the research suggests that some children diagnosed with asthma may, in fact, be suffering from undiagnosed PCD, especially if they present with persistent respiratory symptoms or unusual rhinitis.
“Understanding the overlap between PCD and asthma is critical to helping young patients have healthier respiratory outcomes,” said Gaston, who also serves as a pediatric pulmonologist at Riley Children’s Health. “Future research, including clinical observations and formal airway reactivity tests, will be essential to further explore this relationship.”
The findings of this study are expected to guide clinical practice and spark further research on the intersection of these two conditions, which may ultimately lead to improved management and treatment strategies for affected children.
For more information on this study, see Asthma Among Children with Primary Ciliary Dyskinesia by Joe Zein et al., JAMA Network Open (2024). DOI: 10.1001/jamanetworkopen.2024.49795.
