Primary ciliary dyskinesia: cytological and clinical features.
Thirty patients with functional and/or morphological abnormalities of respiratory tract cilia were identified. The diagnosis of primary ciliary dyskinesia was based on observed abnormalities of ciliary ultrastructure or beating in vitro (beat pattern, beat frequency or percentage of motile cilia). Beat frequency and motility indices approached the normal range in some cases and suggests that the term 'immotile cilia syndrome' is not appropriate. Morphological abnormalities were most commonly due to deficiency of dynein arms, affecting the outer arms (n = 7), inner arms (n = 3) or both (n = 10). Examples of radial spoke and microtubular defects were also identified but in seven subjects ciliary ultrastructure was normal. In six patients paired samples of nasal and bronchial cilia were obtained and showed consistent abnormalities of motility and ultrastructure. Adenosine triphosphate and adenosine triphosphatase did not restore in vitro motility when added to dynein deficient cilia. The clinical picture was of life-long sinusitis and recurrent bronchial infection but the spectrum was broader than that encompassed by Kartagener's triad (dextrocardia, sinusitis and bronchiectasis). Fourteen patients had normal cardiac situs and definite or highly suggestive evidence of bronchiectasis was present in only 17 patients. Radiological evidence of sinusitis was common but absence of frontal sinuses was not universal. Chronic serous otitis media was a frequent finding but deafness was rarely profound. Fertility problems were common but were not universal in female subjects. Lung function testing revealed evidence of airflow obstruction but this was mild in most cases.
Greenstone
M
M
Department of Thoracic Medicine, Brompton Hospital, London.
Rutman
A
A
Dewar
A
A
Mackay
I
I
Cole
P J
PJ
D000251:Adenosine Triphosphatases / Q000494:pharmacology; D000255:Adenosine Triphosphate / Q000494:pharmacology; D000293:Adolescent; D000328:Adult; D002318:Cardiovascular Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000187:drug effects / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007247:Infertility, Female / Q000209:etiology; D007248:Infertility, Male / Q000209:etiology; D008173:Lung Diseases, Obstructive / Q000209:etiology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D012137:Respiratory System / Q000648:ultrastructure*
D000255:Adenosine Triphosphate; D000251:Adenosine Triphosphatases