Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment.

@article{Lie2007PrimaryCD,
  title={Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment.},
  author={Hauw Lie and Thomas Ferkol},
  journal={Drugs},
  year={2007},
  volume={67 13},
  pages={1883-92}
}
Primary ciliary dyskinesia is a genetic disorder causing dysfunctional motility of cilia and impaired mucociliary clearance, resulting in a myriad of clinical manifestations including recurrent sinopulmonary disease, laterality defects and infertility. The heterogenous clinical presentation of primary ciliary dyskinesia and the limitations of transmission electron microscopy to assess ultrastructural defects within the cilium often delay diagnosis. Recent advances in the understanding of the… CONTINUE READING