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Table 1 Candidates for primary ciliary dyskinesia (PCD) testing (adapted from [5,11])

From: Diagnosis and management of primary ciliary dyskinesia

1.

Individuals with situs inversus totalis or other situs abnormalities

2.

Individuals with both upper and lower respiratory tract disease

 

a.

Upper airways disease includes: chronic rhinitis/nasal discharge, chronic sinusitis, hearing impairment due to glue ear, chronic otitis media

 

b.

Lower airways disease includes: chronic wet cough, atelectasis or bronchiectasis, notably in middle lobe, lingula or lower lobes, chronic/recurrent bronchitis/pneumonia

3.

History of unexplained neonatal respiratory distress

4.

Positive family history (for example, affected sibling)

5.

Congenital heart defect, notably if upper/lower airways disease and heterotaxy are present