this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition. One purpose of this study is to measure the level of nitric oxide in the nasal passages and examine how often the results correlate with other tests currently done to make the diagnosis.
Individuals who are diagnosed with Primary Ciliary Dyskinesia OR
Individuals with abnormal PCD diagnostics (abnormal ciliary biopsy or PCD genetics) OR
Individuals with unexplained bronchiectasis OR
Neonatal respiratory distress
Individuals who are unable to understand the requirements of the study.
Individuals (or guardians) who are unwilling to provide consent.
Individuals who are unable to complete the testing
Recent history of sinus surgery (within four weeks) or bloody nose (within one week) of testing (they can be included at a later date)
Participants will include individuals who are diagnosed with PCD or undergoing work-up for primary ciliary dyskinesia based on their clinical symptoms as determined by the primary pulmonologist or other specialist
Other
Prospective
Not listed
Measuring nasal nitric oxide in comparison to ciliary biopsy and genetic testing for the diagnosis of PCD
Individuals with PCD have characteristically low values of nNO; values below an established cut-off of 77nL/min are strongly associated with PCD in compatible clinical settings. These values are not well established for individuals who are in 2-5 years of age. nNO measurements (in nL/min) in 2-5 years of age will be compared to the diagnosis of PCD and assessed to establish diagnostic cut-offs.
Comparing tidal breathing to resistor method
comparing nNO values in nL/min obtained via tidal breathing technique to those obtained via resistor method.
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