TABLE 1

Characteristics of Swiss children and adults with primary ciliary dyskinesia (PCD) participating in the survey (n=74)

TotalChildren <18 yearsAdults ≥18 years
Participants74 (100)24 (100)50 (100)
Age years23.2 (15.2–50.6)12.6 (5.9–15.0)32.4 (23.1–57.0)
Female38 (51)7 (29)31 (62)
Area of residence
 German-speaking Switzerland58 (79)17 (71)41 (82)
 French-speaking Switzerland16 (21)7 (29)9 (18)
Diagnostic certainty
 Definite PCD diagnosis#38 (51)13 (54)25 (50)
 Probable PCD diagnosis23 (31)9 (38)14 (28)
 Clinical diagnosis only13 (18)2 (8)11 (22)
Laterality defect
 Situs solitus38 (51)14 (58)24 (48)
 Situs ambiguous2 (3)0 (0)2 (4)
 Situs inversus32 (43)9 (38)23 (46)
 Unknown2 (3)1 (4)1 (2)
Congenital heart defect5 (9)3 (13)2 (4)
Retinitis pigmentosa1 (1)0 (0)1 (2)
Hydrocephalus1 (1)0 (0)1 (2)
Smoking
 Active smoking7 (9)0 (0)7 (14)
 Ex-smoker4 (5)0 (0)4 (8)
 Passive smoking (in household)18 (24)5 (21)13 (26)
Occupation/school
 Student/preschool29 (39)24 (100)5 (10)
 81–100% employment21 (28)21 (42)
 61–80% employment2 (3)2 (4)
 41–60% employment5 (9)5 (10)
 ≤40% employment8 (11)8 (16)
 Retired/disability pension9 (12)9 (18)

Data are presented as n (%) or median (interquartile range). #: biallelic pathogenic mutation or hallmark defect identified by electron microscopy; : at least one of the following: abnormal light or high-frequency video microscopy finding; low (≤77 nL·min−1) nasal nitric oxide value; non-hallmark defect identified by electron microscopy; pathologic immunofluorescence finding; or genetic findings suspicious for PCD.