Asthma comorbidity of Primary ciliary dyskinesia among Children: JAMA

Primary ciliary dyskinesia (PCD) is a condition that affects the structure and function of motile cilia. It occurs due to a genetic mutation. Literature shows that Asthma can be a comorbidity for PCD due to the antigen stasis that develops on the airway surface. However, there is an ambiguity in considering asthma a routine comorbidity for PCD in children. Hence, researchers conducted a study to assess whether asthma should be routinely considered a comorbidity among children with PCD.

A case-control study was carried out by collecting data from 2 large electronic health record (EHR)–based databases: the Indiana Network for Patient Care Research (INPCR) cohort of 20 million EHRs and, in a validation cohort, TriNetX, which includes 112 million EHRs.

Due to the lack of a specific ICD-10 code for PCD, identifying PCD became a challenge for the authors. Hence, researchers analyzed cases of co-occurring bronchiectasis (ICD-10 J47) and situs inversus totalis (ICD-10 Q89.3) that are unlikely to occur without PCD. The analysis assessed whether individuals with B-SIT also had asthma (ICD-10 J45). Cases and controls were matched by age, sex, ethnicity, and race (1:3 ratio in INPCR, 1:1 in TriNetX). Conditional logistic regression was performed, adjusting for the matching strategy. A conditional exact test was done to compare the proportion of asthma between cases and controls for INPCR.

Findings:

• Out of 266 participants, including 124 B-SIT patients and 142 controls, participants were matched for age, sex, ethnicity, and race.
• In the INPCR study, 9 children had B-SIT, and 27 were in the control group.
• All 9 B-SIT patients had asthma compared with only 1 among the controls (P < .001).
• In TriNetX, which included 115 with B-SIT and same-matched controls, 84 had asthma, and 31 did not.
• In the controls, 12 had asthma, and 103 did not.
• The adjusted odds ratio for asthma patients with B-SIT was 22.3.

Thus, the study concluded that most children with likely PCD (B-SIT) had asthma, highlighting the relationship between PCD and asthma. The researchers underscore the importance of routinely evaluating asthma as a potential comorbidity in PCD. Further research should be done to clarify the immunopathogenesis and validation and should consider whether asthmatic children exhibit PCD.

Further reading: 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.