Primary Ciliary Dyskinesia

  • Michael R. Knowles
  • Hilda Metjian
  • Margaret W. Leigh
  • Maimoona A. Zariwala
Part of the Respiratory Medicine book series (RM)


Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder of motile cilia. In PCD, genetic abnormalities of ciliary ultrastructure and function impair mucociliary clearance, which results in recurrent infection of the lung, as well as the middle ear and sinuses. The genetic defects in respiratory cilia are also frequently shared by specialized cilia (embryonic nodal cilia), which direct the asymmetry of thoracic and abdominal organs; thus, situs inversus and/or situs ambiguus occurs in ∼50% of PCD patients. Sperm tail (flagellar) structures are also affected, and most PCD males are infertile. There has been exciting progress in defining the molecular pathogenesis of PCD, and clinical genetic screening tests have been established for two genes (DNAI1 and DNAH5) that are common causes of PCD. Diagnostic testing now involves a combination of methods, including the measurement of nasal nitric oxide (nNO), which facilitates the identification of more PCD patients and expands our understanding of the PCD clinical phenotype. Early recognition and therapeutic intervention are likely to revolutionize clinical care and likely benefit long-term outcomes. Future efforts will continue to focus on further defining the molecular basis of PCD and exploring the interface/overlap of PCD with other genetic disorders involving “sensory” ciliopathies.


primary ciliary dyskinesia (PCD) clinical manifestations genetic basis diagnosis treatment nasal nitric oxide DNAH5 DNAI1 situs inversus heterotaxy mouse model of PCD 


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Michael R. Knowles
    • 1
  • Hilda Metjian
    • 2
  • Margaret W. Leigh
    • 3
  • Maimoona A. Zariwala
    • 4
  1. 1.Department of MedicineUniversity of North CarolinaChapel HillUSA
  2. 2.Department of Internal MedicineUniversity of North CarolinaChapel HillUSA
  3. 3.Department of PediatricsUniversity of North CarolinaChapel HillUSA
  4. 4.Department of Pathology and Laboratory MedicineThe University of North CarolinaChapel HillUSA

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