Study Finds Asthma Is Common Among Children With Primary Ciliary Dyskinesia

Recent data published in a JAMA Network Open research letter found that children who have primary ciliary dyskinesia (PCD) are significantly more likely to have asthma compared with their counterparts who do not have PCD. The investigators emphasize that routine asthma screening for children with PCD is essential because some patients with PCD may be living with undiagnosed asthma.^1,2

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PCD is a rare genetic disorder that affects airway function and impacts an estimated 1 in 10,000 to 30,000 people in the US. The condition affects the microscopic, hair-like structures—known as cilia—that line the airways and help clear mucus, leading to an increased risk of serious breathing problems and infections in those with the condition. PCD results from mutations in more than 50 genes that affect the structure and function of the cilia. The investigators believe that asthma may be a PCD comorbidity, with antigen stasis on the airway surface in PCD possibly predisposing patients to asthma.^1,2

For this case-control study, the investigators enrolled and analyzed 266 pediatric patients 18 years and older from 2 electronic health record-based databases, the Indiana Network for Patient Care Research (INPRCR) and TriNetX. According to the authors, because health care professionals can sometimes confuse PCD and asthma in a clinical assessment and coding, they analyzed only a combination of 2 diagnoses— bronchiectasis and situs inversus totalis (B-SIT)—that are strongly associated with the presence of PCD. Additionally, individuals with B-SIT were asked if they also had a diagnosis of asthma. Patients were matched with controls.²

The study enrolled 124 patients with B-SIT and 142 controls, who were matched for age, sex, ethnicity, and race. In the INPCR study, 9 children had B-SIT and 27 were in the control group. According to the findings, all 9 B-SIT patients had asthma compared to only 1 of the controls (P < .001). In addition, 84 of 115 patients with B-SIT in the TriNetX group had asthma, and in the controls, 12 of 103 had asthma (P = 2.2 × 10⁻¹⁶). The investigators found that the adjusted odds ratio for patients with B-SIT to have asthma was about 22.3 (95% CI, 10.8-45.9; P < .001).²

"The connection between PCD and asthma has not previously received much attention," Benjamin Gaston, MD, the Billie Lou Wood professor of pediatrics at the Indiana University School of Medicine, and pediatric pulmonologist at Riley Children’s Health, said in a news release. "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."¹

The investigators noted that the findings are consistent with a prior retrospective study and in vitro data, both of which show that antigen stasis promotes an asthma-like inflammation within the PCD airway. Because children with PCD are likely to have chronic, daily rhinitis, does not exclude the possibility that they could also have allergic rhinitis; however, children with PCD often have low nasal nitric oxide concentrations, whereas these are generally higher in children with allergic asthma and rhinitis.²

Further, the authors emphasized that additional research is needed to better understand the underlying immunology of these conditions. Additionally, the current research needs validation prospectively using formal airway reactivity testing and after drug withholding in patients with PCD, as standardized in asthma research.²

"Understanding the overlap between PCD and asthma is critical to helping young patients have healthier respiratory outcomes," said Gaston in the news release. "Future research, including clinical observations and formal airway reactivity tests, will be essential to further explore this relationship.”¹

REFERENCES

1. Indiana University. Asthma more prevalent among children with primary ciliary dyskinesia. News release. December 12, 2024. Accessed December 17, 2024. https://www.eurekalert.org/news-releases/1068104

2. Zein J, Owora A, Kim HJ, Marozkina N, Gaston B. Asthma Among Children With Primary Ciliary Dyskinesia. JAMA Netw Open. 2024;7(12):e2449795. doi:10.1001/jamanetworkopen.2024.49795