Tracheobronchomalacia is common in children with primary ciliary dyskinesia -- a case note review

Background: The estimated prevalence of tracheobronchomalacia (TBM) in children is about 1:2100. Tracheomalacia (TM) prevalence is higher in patients with chronic lung disease such as bronchiectasis and cystic fibrosis (CF) and may contribute to increased morbidity. Objective: To determine the prevalence and assess clinical features of TM, TBM and bronchomalacia (BM) in patients with primary ciliary dyskinesia (PCD). Methods: : We performed a retrospective case-note review of all children with a confirmed or highly likely diagnosis of PCD attending Oslo University Hospital between 2000-2021. We selected those who had undergone flexible fiberoptic bronchoscopy (FB) and in whom the presence of TBM was assessed. We retrieved demographic and clinical data, including airway symptoms, PCD-diagnostic criteria, indication for bronchoscopy, the presence of lobar atelectasis, bacteriology and the descriptive and unblinded video-recorded results of FB. Complications occurring during and after bronchoscopy were noted. Results: : Of 71 children with PCD, 32 underwent FB and were included in the review. The remaining 39 were included for TBM prevalence calculation only. Median age at FB was 6.0 y (3.1 – 11.9). Twenty-two children (69%) had intrathoracic airway malacia. Four (13%) had isolated TM, seven (22%) had TBM, and 11 (34%) had isolated BM affecting either main (n=4) or lobar bronchi (n=7) (LBM), including four with associated lobar atelectasis. FB related complications, one major, 12 minor, were documented in 13 children (41%). Conclusion: We found a high prevalence of TBM among children with PCD undergoing FB. This may represent a significant comorbidity and have implications for patient management.