The challenges of diagnosing primary ciliary dyskinesia.

  title={The challenges of diagnosing primary ciliary dyskinesia.},
  author={Margaret W. Leigh and Christopher O'callaghan and Michael R Knowles},
  journal={Proceedings of the American Thoracic Society},
  volume={8 5},
Primary ciliary dyskinesia (PCD) is a rare genetic disorder of ciliary structure and function. The diagnosis can be challenging, particularly when using nongenetic assays. The "gold standard" diagnostic test is ultrastructural analysis of respiratory cilia obtained by nasal scrape or brush biopsy. A few specialized centers use high-speed videomicroscopy to examine ciliary beat. Certain beat patterns correlate with ultrastructural defects, and, in some cases, subtle alterations in beat pattern… CONTINUE READING

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