Mind the gap: ethnicity and clinical outcomes in Primary Ciliary Dyskinesia

<bold>Introduction:</bold> Primary ciliary dyskinesia is a genetic disorder characterised by otosinopulmonary infections as a result of a motile ciliopathy. There is significant ethnic heterogeneity within the PCD cohort. Ethnic minority populations face greater health disparities impacting respiratory health. <bold>Aims & objectives:</bold> To characterise and compare clinical outcomes in paediatric patients with PCD based on ethnicity. <bold>Methods:</bold> A one-year retrospective cohort study involving children with a confirmed diagnosis of PCD (classical ultrastructural defects and/or genetics). Anonymised data was reviewed as part of their annual comprehensive review process. <bold>Results:</bold> 85 children (48 male) with a mean age of 9.2 years (range 3 months – 17 years) and a mean BMI of 19.08 (range 12.53-31.33) were included. 67% of the cohort was non-white, with the commonest ethnic group being of British Pakistani decent. 88% had bi-allelic mutations in known PCD-causing genes. DNAH5 mutations were the commonest in both white and non-white populations, followed by DNAH11. A greater diversity of genetic mutations was observed in the ethnic minority cohort. Non-white individuals had a lower mean FEV1 (84% versus 90%), higher lung clearance index (10.96 versus 8.62), greater rates of bronchiectasis (59% versus 29%, p=0.02) and higher rates of vitamin D deficiency (61% versus 26%, p=0.01). No significant differences were observed in BMI, chest x-ray findings and immunological defects between the two groups. <bold>Conclusion:</bold> Ethnic minority children with PCD have a greater impairment in lung function and higher rates of bronchiectasis. Implementing strategies focussing on bridging these gaps and improving clinical outcomes in this cohort are necessary.