PMC

Proposed algorithm to diagnose PCD by TEM. PCD, primary ciliary dyskinesia; TEM, transmission electron microscopy.

Diagnostic rates of PCD according to the presence of (A) sinusitis and (B) bronchiectasis. PCD, primary ciliary dyskinesia.

Diagnostic yields of PCD based on the biopsy site. PCD, primary ciliary dyskinesia; NB group, nasal mucosal biopsy group; BB group, bronchial mucosal biopsy group; NBB group, both nasal and bronchial mucosal biopsies group.

Comparison of diagnostic rates among NB, BB and NBB groups in (A) all patients including children and adults and (B) adults (age over 18) patients only. NB group, nasal mucosal biopsy group; BB group, bronchial mucosal biopsy group; BB group, both nasal and bronchial mucosal biopsies group.

Ultrastructure of normal and defected cilia (bars: 100 nm). (A) Normal ciliary ultrastructure with intact 9+2 microtubules and inner and outer dynein arms. (B,C,D,E) Structural abnormality of defected cilia. Many cases commonly have some degree of defect in inner and/or outer dynein arm. (B) Absence of central microtubular doublet and separate peripheral microtubules addition to 9+2 microtubules; (C) supernumerary microtubules, both central and peripheral; (D) outer unpaired single microtubules; (E) increased number of central microtubules.