TABLE 2

Characteristics of included studies reporting clinical manifestations of primary ciliary dyskinesia

Total studies52 (100)
Type of clinic
 Paediatric department16 (33)
 Paediatric pulmonology department9 (17)
 Adult pulmonology department4 (8)
 ENT department11 (21)
 Other department12 (21)
Number of centres
 Single centre35 (66)
 Multicentre17 (33)
Publication period
 Prior to 199412 (23)
 1995–200411 (21)
 Since 200529 (56)
Study size (number of patients)
 ≤2015 (29)
 21–5025 (48)
 50–1009 (14)
 >1003 (6)
Study region
 Europe31 (60)
 Asia10 (19)
 North America8 (15)
 South America2 (4)
 Australia1 (2)
Age of participants
 Children <18 years17 (33)
 Adults ≥18 years3 (6)
 Children and adults32 (62)
Study design
 Retrospective37 (71)
 Prospective15 (29)
Diagnostics performed
 Clinical diagnosis only5 (10)
 Diagnosis proven using EM16 (31)
 Diagnosis proven using EM plus other tests#29 (56)
 No information on diagnostics available2 (4)
Health conditions
 Situs anomalies48 (92)
 Lower respiratory tract conditions48 (92)
  Cough29 (56)
  Sputum production24 (46)
  Lower respiratory tract infections27 (52)
  Bronchiectasis34 (65)
 Upper respiratory tract conditions41 (79)
  Rhinitis28 (54)
  Otitis media26 (50)
  Sinusitis32 (62)
  Hearing impairment14 (27)
  Grommets12 (23)
  Nasal polyps14 (27)
 Other conditions
  Neonatal respiratory distress17 (33)
  Congenital heart disease13 (25)
  Infertility7 (14)
  Hydrocephalus3 (6)
  Retinitis pigmentosa2 (4)
  Renal symptoms0 (0)
Information for different age groups11 (34)
Information on severity0 (0)
  • Data are presented as n (%). ENT: ear, nose and throat; EM: electron microscopy. #: one or more of the following: nasal nitric oxide, high-frequency videomicroscopy or light microscopy or genetics; : out of 32 studies including children and adults.