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 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.