Table 1.
The characteristics of subjects referred for diagnostic testing to University Hospital Southampton primary ciliary dyskinesia (PCD) centre 1st April 2018 to 1st April 2019, grouped by final multidisciplinary team (MDT) diagnostic outcomes.
| PCD Positive/PCD Highly-Likely (n = 7) |
PCD Highly-Unlikely (n = 55) |
Equivocal/Ongoing (n = 8) |
|
|---|---|---|---|
| Median age (min, max) | 11.15 (0.1, 32.2) | 4.5 (0.1, 70.4) | 13.5 (4.0, 63.7) |
| Female n (%) | n = 5 (71.4%) | n = 26 (47.3%) | n = 5 (62.5%) |
| Chronic wet cough % | 100 | 63.6 | 87.5 |
| Rhinosinusitis % | 85.7 | 80 | 75 |
| Situs abnormality % | 71.4 | 12.7 | 0 |
| Median nNO nl/min | 24.4 (Q1 18.8, Q3 47.5, min 18, max 67, n = 6) |
380 (Q1 240, Q3 596, min 1.2, max 1280, n = 49) |
280 (Q1 93, Q 3 548.5, min 5, max 762, n = 8) |
| TEM |
n = 3 normal n = 2 outer arm defects n = 2 outer arm defects with possible inner arm defect |
n = 49 normal n = 6 no data |
n = 7 normal n = 1 no data |
| Mean ex vivo sample CBF or CBP |
n = 5 static, 0 Hz n = 2 variable dyskinesia |
14.8 Hz, SD ± 1.8 (n = 52) n = 2 variable dyskinesia n = 1 insufficient |
13.9 Hz, SD ± 1.2 (n = 6) n = 2 variable dyskinesia |
| Mean in vitro ALI-culture CBF or CBP |
n = 5 static, 0 Hz n = 2 no data (1 failed due to bacteria, 1 sample frozen) |
13.9 Hz, SD ± 2.1 (n = 52) n = 3 not done |
14.4 Hz, SD ± 2.4 (n = 4) n = 2 became static, 0 Hz n = 2 no data (failed due to bacteria) |
| Causative genes |
RSPH4 homozygous CCDC151 homozygous DNAAF3 homozygous DNAAF5 heterozygous DNAH11 homozygous n = 2 no data |
n = 13 no mutation found n = 42 no data |
n = 4 no mutation found n = 1 CCDC164 single heterozygous mutation n = 3 no data |
nasal nitric oxide (nNO); transmission electron microscopy (TEM), ciliary beat frequency (CBF); ciliary beat pattern (CBP).