Table 1.
Study and patient characteristics
| Study Author, Year (Reference) | Location | Study Design | Total Patients* (n) | Patient Description | Prevalence of Patients with PCD (n) | Age | Male Sex (n [%]) |
|---|---|---|---|---|---|---|---|
| Beydon et al., 2015 (29) | France | Cohort | 86 patients suspected of having PCD | Patients included children with chronic rhinosinusitis, serous otitis media, bronchiectasis, chronic bronchitis, or situs inversus. | 49 PCD total; only 44 PCD performed nNO test correctly | PCD median = 11.4 yr (range, 7–13.9) | 81 of 142 (57.0%) |
| 49 of 86 (57.0%) | Non-PCD median = 7.9 yr (range, 4.9–11.6) | ||||||
| Boon et al., 2014 (14) | Belgium | Case–control | 191 patients total | Patients with PCD included children and adults with recurrent upper or lower respiratory tract infections with or without organ situs anomalies. | 38 (NA) | Range = 5–25 yr | 85 of 191 (44.5%) |
| 38 PCD | PCD = 14.3 yr (range, 8.8–18.1) | ||||||
| 153 non-PCD (51 HC, 48 asthma, 54 humoral immunodeficiency) | Non-PCD HC = 14.9 yr (range, 10.8–20.4), asthma = 12.1 yr (range, 9.8–16.5), humoral immunodeficiency = 10.7 yr (range, 8.2–15.6) | ||||||
| Harris et al., 2014 (16) | United Kingdom | Case–control | 44 patients | Unclear | 13 (NA) | Range = 6–79 yr | Not given |
| 13 PCD | |||||||
| 31 non-PCD (16 with symptoms, 15 HC) | |||||||
| Leigh et al., 2013 (17) (leading site) | United States | Case–control | 296 patients | Patients with PCD included children and adults with respiratory features suggestive of PCD (unexplained neonatal respiratory distress, year-round nasal congestion, year-round wet cough, more than five episodes of otitis media by age 2 yr, or situs anomalies, usually after cystic fibrosis and immunodeficiency excluded. | 149 (NA) | PCD mean = 19.1 ± 14.8 yr | 139 of 296 (47.0%) |
| 149 PCD | Non-PCD HC mean = 20.9 ±15.7 yr, asthma = 14.8 ± 11.5 yr, COPD = 61.1 ± 8.9 yr | ||||||
| 147 non-PCD (37 asthma, 32 COPD, 78 HC) | |||||||
| Leigh et al., 2013 (17) (other sites) | United States | Cohort | 155 patients suspected of having PCD | Patients included children and adults with respiratory features suggestive of PCD (unexplained neonatal respiratory distress, year-round nasal congestion, year-round wet cough, more than five episodes of otitis media by age 2 yr, or situs anomalies, usually after cystic fibrosis and immunodeficiencies excluded. | 71 of 155 (45.8%) | PCD mean = 23.3 ± 18 yr | 64 of 155 (41.3%) |
| Non-PCD mean = 31.8 ± 22.3 yr | |||||||
| Mateos-Corral et al., 2011 (15) | Canada | Case–control | 53 patients | Patients with PCD included children with sinopulmonary symptoms typical of PCD, with CF and immunodeficiency ruled out. | 20 (NA) | PCD mean = 11.4 ± 3.5 yr | 26 of 53 (49.1%) |
| 20 PCD | Bronchiectasis mean = 10.9 ± 3.3 yr, HC mean = 11.0 ± 3.7 yr | ||||||
| 33 non-PCD (14 bronchiectasis, 19 HC) | |||||||
| Noone et al., 2004 (30) | United States | Case–control | 140 patients | Patients with PCD included children and adults with lower airway disease with productive cough, wheeze, or shortness of breath and chronic upper airway symptoms of rhinitis/sinusitis with or without situs inversus totalis. | 69 (NA) | Children with PCD median = 8 yr (range, 1–17) | PCD: 36 of 78 (46.2%) |
| 69 PCD | Adults with PCD median = 36 yr (range, 19–73) | ||||||
| 71 non-PCD (27 HC, 44 healthy heterozygotes) | Non-PCD HC mean = 37 ± 2 yr, healthy heterozygotes = 44 ± 2 yr | ||||||
| Papon et al., 2012 (31) | France | Cohort | 34 patients suspected of having PCD | Patients included children and adults with chronic upper and/or lower respiratory tract infections, bronchitis, bronchiectasis, and sinusitis. | 13 of 34 (38.2%) | Mean = 32.5 yr (range, 10–72) | 16 of 34 (47.1%) |
| Piacentini et al., 2008 (32) | Italy | Case–control | 35 patients | Patients with PCD included children with situs inversus and/or bronchiectasis and/or sinusitis. | 10 PCD total; only 8 performed nNO test correctly (NA) | PCD mean = 17 yr | 53 of 87 (60.9%) |
| 8 PCD | Non-PCD = 27 school aged, mean age 7 yr | ||||||
| 27 non-PCD (HC) | |||||||
| Pifferi et al., 2011 (33) | Italy | Cohort | 173 patients suspected of having PCD | Patients included children with clinical history and symptoms of PCD, without cystic fibrosis, aspiration, gastroesophageal reflux, or immunodeficiency. | 48 PCD total; only 40 PCD performed nNO test correctly | Median = 6.2 yr (range, 1 mo–17.5 yr) | 105 of 209 (50.2%) |
| 48 of 173 (27.7%) | |||||||
| Santamaria et al., 2008 (35) | Italy | Case–control | 28 patients | Unclear | 14 (NA) | PCD mean = 15 yr (range, 7–27) | 18 of 28 (64.3%) |
| 14 PCD | HC mean = 16 yr (range, 7–27) | ||||||
| 14 non-PCD (14 HC) | |||||||
| Wodehouse et al., 2003 (34) | United Kingdom | Case–control | 108 patients | Unclear | 42 (NA) | PCD mean = 34.2 ± 10.9 yr | 48 of 108 (44.4%) |
| 42 PCD | Non-PCD range of means = 36.2–53.2 yr | ||||||
| 66 non-PCD (20 bronchiectasis, 12 Young’s syndrome, 18 sinusitis, 16 HC) |
Definition of abbreviations: CF = cystic fibrosis; COPD = chronic obstructive pulmonary disease; HC = healthy control subjects; NA = not applicable; nNO = nasal nitric oxide; PCD = primary ciliary dyskinesia.
*
Number of patients included in our final analysis after excluding patients experiencing technical difficulties with nNO testing (Beydon and colleagues [29; n = 39] and Pifferi and colleagues [33; n = 3]), subjects with CF (Boon and colleagues [14; n = 50], Harris and colleagues [16; n = 6], Leigh and colleagues [17; lead site, n = 77], Mateos-Corral and colleagues [15; n = 32], Noone and colleagues [30; n = 11], and Wodehouse and colleagues [34; n = 15]), and patients with an inconclusive reference standard result (Beydon and colleagues [29; n = 56]). Additionally, uncooperative children who could perform only tidal breathing nNO measurements were excluded from the analysis (Beydon and colleagues [29; PCD, n = 5; non-PCD, n = 7], Piacentini and colleagues [32; PCD, n = 2; healthy control subjects, n = 50], and Pifferi and colleagues [33; PCD, n = 8; non-PCD, n = 28]).