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Cilia Diagnostics in Primary Ciliary Dyskinesia

Presented By
Prof. Heymut Omran, Munster University Hospital, Germany
ATS 2019

Prof. Heymut Omran (Munster University Hospital, Germany) demonstrated that diagnosing primary ciliary dyskinesia (PCD) requires a combined approach utilising characteristic phenotypes and complementary methods for detection of defects of ciliary function and ultrastructure, measurement of nasal nitric oxide, and genetic testing [1].

Prof. Omran and colleagues observed that, currently, biallelic mutations in 73 different genes have been linked to PCD, allowing a genetic diagnosis in approximately 60% of cases, and that management includes surveillance of pulmonary function, imaging, and microbiology of upper and lower airways, in addition to daily airway clearance and prompt antibiotic treatment of infections.

PCD is caused by impaired mucociliary clearance attributed to poor ciliary motility. Clinically, PCD is characterised by chronic airway infections and randomisation of the left/right...

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