[Primary ciliary dyskinesia].

Abstract

Primary ciliary dyskinesia (PCD) is a congenital disorder of cilia mostly associated with ultrastructural defects and resulting in immotility or abnormal motility, with or without a situs inversus. The defects of cilia in PCD cause chronic or recurrent upper and lower respiratory diseases, such as chronic bronchitis, bronchiectasis, chronic sinusitis and otitis media with effusion. Transmission electron microscopy of sperm or respiratory ciliated mucosa allows specific anatomic diagnosis of PCD. Treatment is symptomatic and directed against complications in the respiratory tract. Early physiotherapy is recommended.