TABLE 1.
Demographic and baseline characteristics of patients with primary ciliary dyskinesia (PCD) (n=486)
| All included patients | Patients with information about ultrastructural defects | |||
| Patients | Measurements | Patients | Measurements | |
| Patients n | 486 | 366 | ||
| Country | ||||
| Australia | 16 (3) | 126 (3) | 15 (4) | 118 (3) |
| Belgium | 14 (3) | 151 (3) | 14 (4) | 151 (4) |
| Cyprus | 15 (3) | 145 (3) | 15 (4) | 145 (4) |
| Czech Republic | 27 (5) | 136 (3) | 27 (7) | 136 (4) |
| Denmark | 59 (12) | 1459 (33) | 47 (13) | 1063 (31) |
| France | 38 (8) | 340 (8) | 31 (8) | 297 (9) |
| Germany | 60 (12) | 664 (15) | 44 (12) | 503 (15) |
| Greece | 3 (1) | 16 (0) | ||
| Israel | 41 (8) | 239 (5) | 33 (9) | 199 (6) |
| Italy | 32 (7) | 163 (4) | 32 (9) | 163 (5) |
| The Netherlands | 38 (8) | 114 (3) | 22 (6) | 66 (2) |
| Norway | 13 (3) | 82 (2) | 13 (4) | 82 (2) |
| Poland | 21 (4) | 75 (2) | 14 (4) | 49 (1) |
| Switzerland | 23 (5) | 264 (6) | 20 (5) | 225 (7) |
| Turkey | 49 (10) | 329 (7) | 10 (3) | 95 (3) |
| UK | 37 (8) | 167 (4) | 29 (8) | 128 (4) |
| Sex | ||||
| Male | 247 (51) | 2192 (49) | 192 (52) | 1711 (50) |
| Female | 239 (49) | 2278 (51) | 174 (48) | 1709 (50) |
| Age at diagnosis (years) | 8.64±6.1 | 8.33±6.2 | ||
| Time period of diagnosis | ||||
| 1978–1998 | 85 (17) | 1345 (30) | 75 (21) | 1139 (33) |
| 1999–2008 | 184 (38) | 1793 (40) | 150 (41) | 1372 (40) |
| 2009–2018 | 217 (45) | 1332 (30) | 141 (38) | 909 (27) |
| Diagnostic certainty | ||||
| Definite PCD diagnosis# | 318 (65) | 2933 (66) | 317 (87) | 2924 (85) |
| Probable PCD diagnosis¶ | 137 (28) | 1309 (29) | 40 (11) | 402 (12) |
| Clinical diagnosis only | 31 (7) | 228 (5) | 9 (2) | 94 (3) |
| Organ laterality | ||||
| Situs solitus | 254 (52) | 2424 (54) | 191 (52) | 1861 (54) |
| Situs inversus | 182 (37) | 1613 (36) | 139 (38) | 1191 (35) |
| Heterotaxia | 12 (3) | 99 (2) | 10 (3) | 93 (3) |
| Situs status not reported | 38 (8) | 334 (8) | 26 (7) | 275 (8) |
| Ultrastructural defect | ||||
| Normal | 48 (10) | 439 (10) | 48 (13) | 439 (13) |
| Central complex | 40 (8) | 452 (10) | 40 (11) | 452 (13) |
| ODA | 112 (23) | 1019 (23) | 112 (31) | 1019 (30) |
| ODA/IDA | 101 (21) | 859 (19) | 101 (28) | 859 (25) |
| Microtubular disorganisation | 28 (6) | 286 (6) | 28 (7) | 286 (8) |
| Other | 37 (7) | 365 (8) | 37 (10) | 365 (11) |
| No information | 120 (25) | 1050 (24) | ||
| Values at first measure | ||||
| Age (years) | 10.94±4.35 | 10.52±4.28 | ||
| BMI z-scores | −0.04±1.27 | −0.01±1.25 | ||
| FEV1 z-scores | −1.22±1.62 | −1.1±1.61 | ||
| FVC z-scores | −0.74±1.71 | −0.6±1.66 | ||
| FEV1/FVC z-scores | −0.91±1.44 | −0.9±1.46 | ||
| Values at last measure | ||||
| Age (years) | 16.29±4.84 | 16.39±5.03 | ||
| BMI z-scores | 0.01±1.21 | 0.03±1.21 | ||
| FEV1 z-scores | −1.51±1.56 | −1.45±1.59 | ||
| FVC z-scores | −0.71±1.58 | −0.65±1.61 | ||
| FEV1/FVC z-scores | −1.43±1.31 | −1.40±1.32 | ||
Data are presented as n (%) or mean±sd. ODA: outer dynein arm; IDA: inner dynein arm; BMI: body mass index; FEV1: forced expiratory volume in 1 s: FVC: forced vital capacity. #: defined as hallmark PCD ultrastructural defect identified by electron microscopy findings or biallelic PCD causing gene mutation based on the European Respiratory Society PCD diagnosis guidelines [19]; ¶: abnormal light or high-frequency video microscopy finding and/or low (≤77 nL·min−1) nasal nitric oxide value.