Primary ciliary dyskinesia and neonatal respiratory distress

Abstract

Background and objective: Primary ciliary dyskinesia (PCD) is a rare inherited disease affecting motile cilia lining the respiratory tract. Despite neonatal respiratory distress as an early feature, diagnosis is typically delayed until late childhood. Our objective was to identify characteristics that differentiate PCD from common causes of term neonatal respiratory distress.

Methods: This was a case-control study. Patients with PCD born after 1994 attending a regional PCD clinic who had a history of neonatal respiratory distress (n = 46) were included. Controls (n = 46), term neonates with respiratory distress requiring a chest radiograph, were randomly selected from hospital birth records and matched on gender, birth month/year, and mode of delivery. Multiple logistic regression was used to determine the association between neonatal characteristics and PCD diagnosis. The diagnostic performance of the best predictive variables was estimated by calculating sensitivity and specificity.

Results: PCD cases required more oxygen therapy (39 cases, 29 controls, P = .01), longer duration of oxygen therapy (PCD mean = 15.2 days, control mean = 0.80 days, P < .01), had later onset of neonatal respiratory distress (PCD median = 12 hours, control median = 1 hour, P < .001), and higher frequency of lobar collapse and situs inversus (PCD = 70% and 48% respectively, control = 0% for both, P < .001). Situs inversus, lobar collapse, or oxygen need for >2 days had 87% (95% confidence interval: 74-94) sensitivity and 96% (95% confidence interval: 85-99) specificity for PCD.

Conclusions: When encountering term neonates with unexplained respiratory distress, clinicians should consider PCD in those with lobar collapse, situs inversus, and/or prolonged oxygen therapy (>2 days).

Keywords: Kartagener syndrome; PCD; ciliary motility disorders; infant; pulmonary atelectasis; respiratory distress syndrome.

FIGURE 1

Neonatal chest radiographs demonstrating lobar collapse in 3 different subjects with PCD. A, Situs inversus, left upper and right upper lobe collapse at day of life 2. B, Right upper lobe collapse at day of life 6. C, Situs inversus and left upper lobe collapse on day of life 7.