[Primary ciliary dyskinesia. Ciliopathies].
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome). Diagnosis is made by analyzing cilia motility with high-speed digital video and ciliar ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia.
Armengot Carceller
Miguel
M
Servicio de Otorrinolaringología, Hospital General Universitario, Facultat de Medicina, Universitat de València, Valencia, España. miguel.armengot@gmail.com
Mata Roig
Manuel
M
Milara Payá
Xavier
X
Cortijo Gimeno
Julio
J
D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000628:therapy; D006801:Humans