Primary ciliary dyskinesia (PCD) is a group of inherited genetic disorder caused by ciliary dyskinesia, the onset age of which is often in childhood, manifestations as recurrent respiratory infections, chronic bronchitis, chronic sinusitis, chronic otitis media, bronchiectasis and so on.Ciliary ultrastructural defects seen by transmission electron microscopy are considered as the golden criteria of PCD diagnosis.Other investigations may help the diagnosis, which include ciliary beat frequency and pattern analysis, nasal nitric oxide, and gene test.There is no special effective therapy of PCD, and mainly symptomatic treatment is used.Early diagnosis and the prevention of recurrent respiratory infections can delay the bronchiectasis formation and improve the prognosis.
Key words:
Primary ciliary dyskinesia; Cilia; Child