Early Life Disease Burden and Outcomes in Children Diagnosed With Primary Ciliary Dyskinesia in Infancy

BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder causing chronic oto-sino-pulmonary disease from birth. Since diagnosis is often delayed into childhood or adulthood, early-life disease burdens remain poorly described. METHODS: This retrospective study analyzed disease burdens until 2 years of age and outcomes at 6-7 years of age in children diagnosed with PCD near birth at two Canadian PCD centers. RESULTS: Thirty-five infants (median diagnostic age 34 days) were included. All received daily chest physiotherapy, while 52% received daily inhaled hypertonic saline therapy (IHS) from diagnosis. By 2 years of age, 66% experienced outpatient respiratory exacerbations, 29% had inpatient respiratory exacerbations, 60% required emergency room visits for respiratory illness, and 14% had Pseudomonas aeruginosa in sputum cultures. Abnormal audiology occurred in 91% screened, and 49% required tympanostomy tubes. Despite early diagnosis and therapy, spirometry showed a trend towards obstruction (mean FEV₁/FVC ratio Z-score -1.43) by 7 years of age. Infants on daily IHS from birth (n = 18, mostly at one center) had significantly fewer Pseudomonas aeruginosa sputum isolates (0% vs. 29%, p = 0.02) but significantly increased inpatient respiratory exacerbations (44% vs. 12%, p = 0.04) compared to infants not on regular IHS (n = 17). CONCLUSION: Despite early diagnosis, ongoing respiratory surveillance, and regular airway clearance, infants with PCD develop frequent respiratory infections and have high clinical care burdens. Infants have markedly increased risk of hearing loss, warranting universal screening and close follow-up. Inhaled hypertonic saline may influence early Pseudomonas acquisition and hospitalization risk, warranting prospective study of this commonly prescribed therapy.