title: Primary ciliary dyskinesia and neonatal respiratory distress.
abstract: 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).
authors.affiliation: Divisions of Respiratory Medicine and Departments of Post Graduate Medical Education and.
authors.forename: Tara
authors.initials: T
authors.lastname: Mullowney
authors.affiliation: Department of Diagnostic Imaging, and Medical Imaging, and.
authors.forename: David
authors.initials: D
authors.lastname: Manson
authors.affiliation: Departments of Post Graduate Medical Education and Clinical and Metabolic Genetics.
authors.forename: Raymond
authors.initials: R
authors.lastname: Kim
authors.affiliation: Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada;
authors.forename: Derek
authors.initials: D
authors.lastname: Stephens
authors.affiliation: Department of Paediatrics, Mount Sinai Hospital, Toronto, Ontario, Canada Paediatrics, Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; and.
authors.forename: Vibhuti
authors.initials: V
authors.lastname: Shah
authors.affiliation: Divisions of Respiratory Medicine and Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada; Paediatrics, Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; and sharon.dell@sickkids.ca.
authors.forename: Sharon
authors.initials: S
authors.lastname: Dell
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D010102:Oxygen Inhalation Therapy; D001261:Pulmonary Atelectasis / Q000175:diagnosis / Q000628:therapy; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000628:therapy; D012680:Sensitivity and Specificity; D012857:Situs Inversus / Q000175:diagnosis / Q000628:therapy
keywords: Kartagener syndrome; PCD; ciliary motility disorders; infant; pulmonary atelectasis; respiratory distress syndrome