Diagnosing primary ciliary dyskinesia (PCD) in a molecular age
Symposium Chairs: Andrew Bush (London, United Kingdom), Angelo Barbato (Padova, Italy)
Aims: The aims of this session are to explain the importance of an accurate diagnosis from the patients’ perspective; describe the barriers to obtaining a diagnosis for this rare ‘orphan’ lung disease; present data from an international survey of >300 patients conducted as part of the PCD task force; describe the clinical features that should prompt referral for diagnostic testing; discuss the disparity of diagnostic services in Europe; explain the pathophysiology and genetic basis of PCD; and present the recommendations of the ERS PCD task force "Diagnosis of primary ciliary dyskinesia (PCD) in a molecular age: A practice guideline for diagnosing patients with PCD."