Clinical Information

Primary ciliary dyskinesia (PCD) is a condition characterized by motile ciliary dysfunction due to structural or biogenesis defects of the cilia.(1,2) The primary clinical manifestation of PCD is chronic upper and lower respiratory disease (including neonatal respiratory distress, chronic cough, chronic nasal congestion, chronic pansinusitis, recurrent pulmonary infections, and bronchiectasis) leading to respiratory failure.(1-3) Other common features of PCD include laterality (situs) defects and infertility.(1-3) When laterality defects are present in addition to respiratory manifestations, the condition may be described as Kartagener syndrome.(4)

Diagnostic workup for suspected PCD can include ciliary ultrastructure analysis via transmission electron microscopy, high-speed video microscopy with ciliary beat pattern analysis, nasal nitric oxide level measurement, immunofluorescence imaging of axonemal proteins, and molecular genetic testing.(1,2) Genetic testing can be diagnostic when other analyses have normal or ambiguous results.(2)

The prevalence of PCD is not established and estimates of prevalence have ranged from 1:2200 to 1:40,000 births.(4) In individuals with well-supported PCD diagnoses via clinical and ciliary analyses, it is estimate that a genetic etiology can be identified in up to 80% of cases.(3) In most cases, PCD follows an autosomal recessive pattern of inheritance. Rarely, PCD can follow an autosomal dominant or X-linked pattern of inheritance.