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2014 ; 134
(6
): 1160-6
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Primary ciliary dyskinesia and neonatal respiratory distress
#MMPMID25422025
Mullowney T
; Manson D
; Kim R
; Stephens D
; Shah V
; Dell S
Pediatrics
2014[Dec]; 134
(6
): 1160-6
PMID25422025
show ga
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).