Table. 2—

Diagnostic yield of each individual investigation

InvestigationPerformed nPositive n
Immunology work-up110/136 (81)46/110 (42)
Bronchoscopy with alveolar lavage68/136 (50)8/68 (12); two cases with laryngomalacia, one case with tracheobronchial malacia, one case with bronchial atresia showed distorted anatomy, one case with aspiration showed inflamed right middle bronchus, and three cases with aspiration had a significant amount of fat-laden macrophages detected
Ciliary function66/136 (49)19/66 (29)
Nasal nitric oxide19/136 (14)9/19 (47); range 16.3–133 ppb
Ciliary beat frequency#17/20 (85)11/17 showed static ciliary motion; 4/17 showed reduced beat frequency; 2/17 showed dyskinetic ciliary motion
Electron microscopy#13/20 (70)2/13 showed orientation defect; 5/13 showed IDA abnormalities; 2/13 showed ODA abnormalities; 4/13 showed combined IDA and ODA abnormalities
24-h pH study51/136 (38)23/51 (45)
α1-Antitrypsin30/136 (22)0/27 (0)
Mantoux test23/136 (17)0/23 (0)
Barium contrast study18/136 (13)2/18 (11); both showed presence of reflux, but, in one case, pH study was normal
  • Data are presented as n/N (%). ppb: parts per billion; IDA: inner dynein arm; ODA: outer dynein arm. #: for the 20 primary ciliary dyskinesia patients.