Diagnostic of Primary Ciliary Dyskinesia: guidelines to obtain appropriate ciliate cell samples

Background Primary Ciliary Dyskinesia (PCD) is a rare inherited disease (~1/20,000), characterized by ciliary structure/function abnormalities, responsible for impaired muco-ciliary transport, leading to recurrent upper and lower airways infections early in life and infertility. The diagnosis is confirmed on ciliate cell samples, collected by nasal and/or bronchial endoscopy. Patients usually need several samples, due to difficulties to get reliable results, especially during respiratory tract infections which are frequent in PCD. We created national guidelines aimed at obtaining the more efficient quality of ciliate cell samples for children and adults.