Table 2.
Baseline characteristics of participants with acceptable MBW and spirometry (final analytical cohort), including children with PCD, children with CF, and healthy control subjects*
| Characteristics | Subjects with PCD (N = 17) | Subjects with CF (n = 36) | HC Subjects (n = 53) |
|---|---|---|---|
| Sex, M, n (%) | 7 (41) | 21 (58) | 24 (45) |
| Age, median (IQR), yr | 8.6 (6.1 to 10.0) | 8.8 (6.9 to 11.1) | 9.2 (7.3 to 11.4) |
| Weight z-score†, median (IQR) | −0.35 (−0.96 to 0.47) | −0.34 (−0.69 to 0.37) | 0.21 (−0.51 to 0.78) |
| Height z-score†, median (IQR) | −0.61 (−1.25 to 0.11) | −0.43 (−1.05 to 0.38) | −0.02 (−0.65 to 0.54) |
| BMI z-score†, median (IQR) | 0.14 (−0.76 to 0.92) | 0.11 (−0.46 to 0.61) | 0.41 (−0.25 to 0.87) |
| Race/ethnicity, n (%) | |||
| White, non-Hispanic | 16 (94) | 33 (92) | 40 (75) |
| Black | 0 (0) | 1 (3) | 5 (9) |
| Asian | 0 (0) | 0 (0) | 2 (4) |
| Hispanic | 1 (6) | 2 (5) | 4 (8) |
| Other | 0 (0) | 0 (0) | 2 (4) |
| PCD ciliary defect type‡, n (%) | |||
| ODA | 6 (35%) | ||
| ODA/IDA | 4 (24%) | ||
| IDA/CA/MTD | 5 (29%) | ||
| Normal | 2 (12%) | ||
| CF genotype, n (%) | |||
| Homozygous ΔF508 | 21 (58%) | ||
| Heterozygous ΔF508 | 13 (36%) | ||
| Other | 2 (6%) |
Definition of abbreviations: BMI = body mass index; CA = central apparatus; CF = cystic fibrosis; HC = healthy control; IDA = inner dynein arm; IQR = interquartile range; MBW = multiple breath washout; MTD = microtubular disorganization; ODA = outer dynein arm; PCD = primary ciliary dyskinesia.
The final analytic cohort included 25 historical participants (see Methods), including three (18%) subjects with PCD, 10 (28%) subjects with CF, and 12 (23%) HC subjects.
Calculated using Centers for Disease Control and Prevention reference data.
PCD ciliary defects included the following PCD-causing genes: ODA (DNAH5 in four subjects, DNAI1 in one subject, and none identified in one subject), ODA/IDA (DNAAF1 in two subjects and none identified or unknown in two subjects), IDA/CA/MTD (CCDC39 in one subject and CCDC40 in four subjects), and normal (CCDC65 in one subject and RPGR in one subject).