TABLE 1

PCD Cases Included in Study Compared With Total Toronto PCD Clinic Population

VariablePCD Study Population, N = 46 (Frequency, %)aPCD Study Population With Chest Radiograph, N = 23 (Frequency, %)aTotal PCD Clinic Population, N = 55 (Frequency, %)a
Gender, boy28 (61)16 (70)32 (58)
Current age, mean (SD)10.9 (5.5)8.1 (4.8)11.0 (5.3)
Situs inversus22 (48)11 (48)27 (49)
Preterm, <36 wk001 (2%)
Ciliary defect
 ODA5 (11)2 (9)5 (9)
 ODA/IDA22 (48)10 (44)26 (47)
 IDA/CA7 (15)4 (17)8 (15)
 Indeterminate3 (6)2 (9)5 (9)
 Normal5 (11)1 (4)6 (11)
 Not available4 (9)4 (17)5 (9)
PCD genetics
 DNAH512 (26)7 (30)13 (24)
 DNAH113 (7)2 (9)5 (9)
 CCDC394 (8)2 (9)4 (7)
 CCDC403 (7)2 (9)3 (5)
 LRRC62 (4)0 (0)2 (3)
 Otherb4 (9)0 (0)7 (13)
 Not available12 (26)8 (34)14 (26)
 Genetics negative6 (13)2 (9)7 (13)
Nasal nitric oxide, nL/min, mean (SD)19.9 (26.8)18.9 (31.4)22.0 (31.1)
Bronchiectasis25 (63)9 (47)30 (64)
Neonatal respiratory distress (on history)46 (100)23(100)50 (91)
Congenital heart disease004 (7)
Age at diagnosis in years, median (range)4.3 (0.1–17)0.8 (0.1–17)5.0 (0.8–17)
  • Data are presented as number (%) unless noted otherwise. CA, central apparatus defect; IDA, inner dynein arm defect; ODA, outer dynein arm defect.

  • a Frequencies adjusted for missing values.

  • b Other category includes the following genes: SPAG1, CCDC103, KTU/DNAAF2, CCNO.