Optimal biopsy techniques in the diagnosis of primary ciliary dyskinesia

Adequate biopsy specimens that clearly demonstrate cilia, and therefore enable the determination of the presence or absence of primary cilia dyskinesia, may be difficult to obtain. This study is an attempt to identify the optimal sampling technique to best examine respiratory tract cilia.

A prospective comparison of the four sampling techniques was carried out: nasal brushing, nasal biopsy, bronchial brushing, and tracheal biopsy.

Tertiary care pediatric hospital: Children's Hospital of Eastern Ontario.

Ten consecutive patients booked for bronchoscopy and tracheal biopsy underwent all four procedures. Specimens were examined under light microscopy for an assessment of quality.

The nasal brushing and tracheal biopsy specimens provide superior quality (p = .22); however, nasal brushing is more cost efficient. Nasal biopsy samples frequently are metaplastic and therefore are inferior to nasal brushing samples (p = .02).

With equal efficiency demonstrated, the reduction in potential morbidity and health care costs suggests nasal brushings to be the optimal initial investigation for primary ciliary dyskinesia.