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A2847 - Neonatal Chest X-Ray Findings in Patients with Primary Ciliary Dyskinesia
Author Block: T. J. Vece1, E. S. Takoushian1, M. A. Zariwala1, K. M. Sullivan1, M. R. Knowles2, M. W. Leigh3; 1University of North Carolina at Chapel Hill, Chapel Hill, NC, United States, 2Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States, 3Department of Pediatrics and Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Rationale: Primary ciliary dyskinesia (PCD) is a rare disorder of mucociliary clearance. Approximately 80% of PCD patients have a history of neonatal respiratory distress1. A recent study showed that an abnormal chest x-ray (CXR), specifically infiltrates and lobar collapse, were more commonly seen in patients with PCD2. In this study, we evaluated neonatal CXRs from individuals with confirmed PCD to determine prevalence of atelectasis and infiltrates at a different institution from the original study.
Methods: We identified children seen at the University of North Carolina that met the following criteria: PCD confirmed by presence of “hallmark” EM defect and/or two loss of function genetic mutations in a known PCD causing gene; a history of neonatal respiratory distress; and a CXR within the first 28 days of life. Clinical information was extracted from the medical record. All CXRs were reviewed independently by two pediatric pulmonologists (TJV and MWL). CXRs were described as normal, infiltrate/atelectasis, partial atelectasis, and lobar atelectasis. Infiltrate/atelectasis, partial atelectasis, and lobar atelectasis were placed in a single group of abnormal CXRs with the remaining x-rays classified as normal. Disagreements in CXRs were resolved by the reviewers. Descriptive statistics were used to analyze the data.
Results: We identified 26 subjects that met inclusion criteria - 21/26 had CXRs available for review and 5/26 had only a radiologic report. 50% (13/26) of subjects were male. 58% had situs inversus totalis. 7 subjects were born via C-section. The median age at diagnosis of PCD was 1.85 years. The median age at onset of neonatal respiratory symptoms was 16 hours. The median length of hospitalization was 17 days. The median age at first CXR was 1 day. 73% of patients had an abnormal CXR. 54% were classified as either having partial or lobar atelectasis while 19% had infiltrates but were not classifiable as atelectasis on CXR alone. The most common ciliary ultrastructure defect was missing outer dynein arms, and the most common genetic defect was DNAH5, followed by CCDC39 and CCDC40.
Conclusions: This study confirms the previously reported data on the frequency and type of abnormal CXRs in neonates with respiratory distress and PCD. PCD should be considered in the differential diagnosis of any neonate with neonatal respiratory distress and atelectasis or infiltrate on CVXR. A larger multi-center study is needed to determine if certain genotypes are more likely to have neonatal respiratory distress and atelectasis.