Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture.
During the period 1990-1999 84 PCD patients were identified and characterized. The expression of inherited abnormalities in primary ciliary dyskinesia after ciliogenesis was investigated in 41 patients with dynein deficiency, 6 patients with absence of the central pair of microtubules and 24 PCD patients with normal ultrastructure. In patients with dynein deficiency, the outer dynein arms counts were 1.9 +/- 1.0 in the biopsies and 1.6 +/- 0.7 after ciliogenesis. Secondary abnormalities were found in 15.8 +/- 20.4% of the transverse sections of cilia and only in 1.0 +/- 1.3% after ciliogenesis. Ciliary orientation was 28 +/- 11 degrees and 24 +/- 10 degrees respectively in biopsies and cultures. In patients with absence of the central pair this was found in 15 +/- 16% in biopsies and 21 +/- 19% after ciliogenesis. The values for the outer dynein arm were 8.4 +/- 0.3 and 8.7 +/- 0.2 and for the secondary abnormalities were 11.7 +/- 7.3% and 0.5 +/- 1.3% in the biopsies, respectively after ciliogenesis. In patients with normal ultrastructure the scores for the dynein arms were similar. Secondary abnormalities were found in 12.2 +/- 11.7% in the biopsies and 0.6 +/- 0.9% after ciliogenesis while ciliary orientation was respectively 21 +/- 7 degrees and 25 +/- 8 degrees. In conclusion, inherited abnormalities in primary ciliary dyskinesia are expressed after ciliogenesis, while secondary abnormalities are virtually absent, thereby facilitating the ultrastructural diagnosis.
Jorissen
M
M
ENT Department, UZ GHB, Leuven. Mark.Jorissen@med.kuleuven.ac.be
Willems
T
T
Van der Schueren
B
B
Verbeken
E
E
De Boeck
K
K
D001706:Biopsy; D002478:Cells, Cultured; D002923:Cilia / Q000473:pathology / Q000502:physiology* / Q000648:ultrastructure*; D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000378:metabolism; D004398:Dyneins / Q000172:deficiency; D006801:Humans; D008854:Microscopy, Electron / Q000379:methods; D008870:Microtubules / Q000473:pathology / Q000502:physiology / Q000648:ultrastructure; D013997:Time Factors
D004398:Dyneins