Clinical features & management of 334 children with primary ciliary dyskinesia in the English National Cohort

Introduction: Primary ciliary dyskinesia (PCD) is a rare condition where impaired mucociliary clearance leads to recurrent sinopulmonary infection & bronchiectasis. A National Children9s PCD management service was commissioned in England in 2012 across 4 Centres. The aim of this study was to describe the characteristics of all children in England within this new service. Methods: Detailed diagnostic, phenotypic & management data were collected at annual review assessments for all children seen in 2014. Results: 334 children underwent annual review. Median age at review was 9.8yrs. Median age at diagnosis was 2.6yrs, however was significantly lower in patients with dextrocardia (1.0yr vs 6.2yrs, p<0.0001). Mean (SD) FEV1 z score was -1.85 (1.39) equivalent to a mean (SD) % predicted FEV1 76.9% (17.6) (n=242). Compared with National data in cystic fibrosis (CF), FEV1 was lower in PCD children of all age groups. This was more evident in younger children, in 6-7yr olds median predicted FEV1 was 96% in CF vs 81.4% in PCD. 56% of children had varying degrees of hearing impairment but this improved significantly with age, p=0.03. Children with a lower BMI had a lower FEV1, p<0.0001. Regular intravenous antibiotics, prophylactic antibiotics & nebulised hypertonic saline were used in children with lower mean FEV1 z scores compared to those not on these treatments (-2.37 vs -1.62, p=0.0001; -2.02 vs -1.61, p=0.02 & -2.13 vs -1.43, p=0.02 respectively). Conclusion We provide evidence that, far from being a mild respiratory condition, children with PCD have worse lung function than those with CF. This highlights the need for intensive management of PCD by a multi-professional specialist team.