Diagnosis of primary ciliary dyskinesia (PCD) in a molecular age: A practice guideline for diagnosing patients with PCD

Chairs: Jane Lucas & Angelo Barbato

PCD is a rare inherited disorder of ciliary function resulting in impaired mucociliary clearance. Symptoms include progressive supportive pulmonary disease, chronic rhino-sinusitis, hearing problems and infertility.

Following a systemic literature and using GRADE approach, the aims of the project are to develop evidence-based guidelines for each diagnostic method and to produce an algorithm regarding how diagnosis of PCD should be confirmed or refuted. The TF also plan to develop guidelines for diagnosis in populations where access to highly specialist equipment or expertise is not available.