Ten years’ experience of Primary Ciliary Dyskinesia Diagnostic Testing

Abstract

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease that impedes ciliary function, leading to recurrent upper and lower airway infections. The Southampton PCD Diagnostic Centre has been commissioned by NHS England since 2006. We aimed to describe the characteristics of patients diagnosed at the centre. Methods: We conducted a cross-sectional study using data from local PCD registry, electronic health records and medical notes for all patients diagnosed with PCD in Southampton from 2006 to 2016. Results: Of 1,720 referrals, we diagnosed 142 patients with PCD (8%). Diagnosis was always based on at least one diagnostic test. The number of tests has increased in the last 5 years particularly in genotyping (65% vs 56% before 2011). Nasal nitric oxide was measured in 82% of patients over 5 years of age. Overall, 84% had high-speed video analysis, of which 70% showed predominantly static cilia, with the remainder exhibiting a variety of beat patterns; 131 patients had transmission electron microscopy, which showed ‘hallmark’ defects in 70% of cases; and 59% were genotyped. Median age at initial assessment was 10 years, younger for the 43% with situs abnormalities (7 vs 12 years, p=0.062). 11% had congenital heart disease, considerably higher than previously reported (3-6%). 72% reported neonatal respiratory symptoms, of which 58% needed respiratory support. Mean FEV1% was low in both children and adults (79% vs 71% respectively, p=0.26) at the time of diagnosis. Conclusion: We found a high prevalence of congenital heart disease and neonatal respiratory symptoms. Lung function was impaired in both children and adults. These findings highlight the need for early care for PCD in specialised centres.