Skip to main content

Table 1 Clinical characteristic of the analyzed cohort

From: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Criteria

Number of families

Typical clinical manifestation of PCD* associated with s.i.

74 KS

Typical clinical symptoms without s.i., AND a defect in the ciliary ultrastructure in transmission electron microscope†

32 CDO‡

Typical clinical symptoms without s.i., and the absence of ciliary motility as seen in the light microscope

51 CD

  1. *Recurrent upper respiratory tract infections, recurrent pneumonia, chronic bronchitis, bronchiectasis, sinusitis and otitis media, reduced mucociliary clearance as shown by a negative result of a saccharine test; †Usually lack of the outer/inner dynein arms, defective configuration of the microtubules; ‡TEM data were also available for 35 KS families. In nine families (5 CDO and 4 KS), the diagnosis was supported by low values of nasal NO ( < 100 parts per billion, ppb compared to normal > 600 ppb [37, 38]).
Back to article page

Respiratory Research

ISSN: 1465-993X

Contact us