Paediatric
Symposium
Diagnosing primary ciliary dyskinesia (PCD) in a molecular age
Clinical
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."
Target audience :
Allied health professional, Clinician, Fellow, General practitioner, Junior member, Lung function technician, Neonatologist, Nurse, Otolaryngologist, Paediatrician, Pathologist, Patient, Physiotherapist, Pulmonologist, Researcher, Resident, Respiratory physician, Respiratory therapist, Scientist, Trainee
08:30
Patients’ perspectives on diagnostic testing
L. Dixon(Buckingham, United Kingdom)
COI
-
Description
1
1759
09:00
Barriers and solutions to accurate diagnoses
C. Kuehni(Bern, Switzerland)
COI
-
Description
2
1760
09:30
Genetic mechanisms of PCD
H. Omran(Münster, Germany)
COI
-
Description
3
1761
10:00
ERS PCD task force recommendations for diagnostic testing
J. Lucas(Southampton (Hampshire), United Kingdom)
COI
-
Description
4
1762
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