Abstract
Background:
There are approximately 3,000 confirmed diagnoses of primary ciliary dyskinesia (PCD) in North America. Delayed or missed diagnosis of PCD, due in part to limitations of available diagnostic tests, is quite common and approximately 25,000 Americans are estimated to have undiagnosed PCD. Nasal nitric oxide (nNO) measurement is a validated, noninvasive test that is recommended by the American Thoracic Society (ATS) and the PCD Foundation for PCD screening. Due to the paucity of centers capable of screening for PCD within our region, the Respiratory Therapy (RT) Research Team and the Pediatric Pulmonary Division of the Children’s Hospital of Richmond sought to establish an nNO measurement program and hypothesized that it could be successfully directed by RTs at our facility and used to improve PCD screening.
Methods:
An institutional review board (IRB) approved research protocol for nNO measurement from subjects over three years of age with a clinical phenotype for PCD was established by the RT Research Team. Dedicated RTs were trained in study screening, nNO measurement using the Sievers 280i NOA device, and interpretation of nNO results according to ATS guidelines. Per those guidelines, two measurements greater than two weeks apart with an nNO < 77 nL/min is considered positive for PCD. Results were included in a REDCap secure database for monitoring PCD within our region and used by the clinical team for guiding treatment.
Results:
Within the first 90 days of the program, nNO measurements were conducted in eight subjects suspected of having PCD with only one measurement failure during a second visit of a subject. Three subjects were positively screened for and subsequently diagnosed with PCD. Table 1 includes descriptive statistics of those screened. Screening has since expanded beyond the Pediatric Pulmonary Medicine Service and now includes Adult Pulmonary Medicine and Allergy, Asthma, and Immunology Services.
Conclusions:
Development of an RT-directed nNO measurement program for PCD screening has been successful at our facility. This program has led to successful screening of eight subjects in its first quarter of operation and confirmed diagnosis of three subjects. This study was designed to not only improve monitoring, diagnosis and treatment of PCD regionally but to also serve as a model for other centers. Future aims include working with other centers to develop similar RT-directed programs and improve PCD screening internationally.
Table 1 - Descriptive Statistics
#
Age (years, Average, Max/Min)
11.8, 18/7
Female
7
Male
1
nNO (nL/min, Average, Max/Min)
125.3, 260.5/5.5
Positive nNO for PCD
3
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