[Clinical features of primary ciliary dyskinesia].
Primary ciliary dyskinesia is a recessively inherited group of disorders with abnormal ciliary activity leading to disturbed mucociliary clearance. Clinical manifestations as early as the first year of life are recurrent rhinitis, otitis media, sinusitis and lower respiratory tract infections. Another typical presentation is situs inversus. Biopsy of the ciliated mucosa in the nose or bronchi is required for study by vital microscopy and electronmicroscopy to confirm the diagnosis. Early diagnosis is important for initiation of rigorous treatment involving physiotherapy, inhalation with beta 2-mimetics and prompt antibiotic treatment to prevent irreversible damage such as bronchiectasis. Compared with cystic fibrosis the prognosis is better, because older children can compensate the absent mucociliary clearance with always-functioning cough clearance.
Rutishauser
M
M
Universitäts-Kinderspital beider Basel.
D001706:Biopsy; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D009297:Nasal Mucosa / Q000473:pathology; D020545:Respiratory Mucosa / Q000473:pathology