Am. J. Respir. Crit. Care Med., Vol 153, No. 3, Mar 1996, 1123-1129.
Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome
CF Rayner, A Rutman, A Dewar, MA Greenstone, PJ Cole and R Wilson
Department of Thoracic Medicine, Royal Brompton National Heart and Lung Institute, London, United Kingdom.
Ciliary disorientation has been proposed as a variant of primary ciliary
dyskinesia (PCD); cilia have normal ultrastructure and normal or near
normal ciliary beat frequency (CBF) but lack efficacy because their beat
direction is disorientated. We have identified 11 patients, including two
siblings, with the clinical features of PCD, who satisfy these criteria. A
chest radiograph, pulmonary function tests, nasal mucociliary clearance
(NMCC), CBF, ciliary ultrastructure, and orientation were assessed in each
subject. One patient had biopsies taken from the nose and both main
bronchi. Eight patients had a computed tomography scan (CT) of the thorax;
the clinical features were compatible with PCD. Cilia ultrastructure was
normal and NMCC was absent in all cases. Mean CBF was normal (11.6-14.9 Hz)
in five cases and slow in six (range 8.4-9.7 Hz). Ciliary beat pattern was
stiff in seven cases, six of which had slow CBF. The cilia were
disorientated when measured by both the central pair (range, 21.8 degrees -
26.4 degrees) and basal feet (range, 20.6 degrees - 28.9 degrees) compared
with 16 normal controls (range, 11.0 degrees - 15.5 degrees and 12.3
degrees - 17.6 degrees, respectively). Two siblings had the clinical
features of PCD and ciliary disorientation alone on repeated biopsies taken
10 yr apart. Orientation of cilia from the nose and bronchus was similar.
Two cases had unchanged ciliary disorientation after 3 mo of treatment with
antibiotics and topical corticosteroids. We concluded that ciliary
disorientation alone can lead to the clinical syndrome of PCD.
