+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Primary ciliary dyskinesia (the immotile cilia syndrome)

Primary ciliary dyskinesia (the immotile cilia syndrome)

Annals of Allergy 73(6): 457

The purpose of this review is to familiarize the reader with the genetic aspects, clinical manifestations, diagnostic techniques and management of the primary ciliary dyskinesia syndrome. Further, this article illustrates some unusual features of this syndrome and discusses some speculative hypotheses concerning its pathogenesis and clinical presentation. The bibliography includes references in English as well as some references of historical interest in German. Both human and veterinary literature are quoted. Sources included computerized bibliographic searches of recent literature and reviews of literature. Selection of papers was made based on their historic importance in the definition and characterization of the disease, and on reviews of large bodies of novel or interesting information. Some review papers were not included to avoid repetition. Although the incidence of primary ciliary dyskinesia is low, the inclusion of this condition in the differential diagnosis of chronic and recurrent sinobronchial disease in children and older individuals is very common. Primary ciliary dyskinesia should be suspected in individuals who present chronic respiratory symptoms already in the neonatal period, develop profuse, chronic mucopurulent rhinorrhea, and chronic otitis media and sinusitis. Chronic cough, obstructive lung disease, and bronchorrhea associated with the aforementioned manifestations should also make clinicians suspect this syndrome. Male sterility is almost universally present and situs inversus is present in 50% of affected persons. The diagnosis of primary ciliary dyskinesia is clinical and is confirmed by studies of ciliary motility and ultrastructure of the respiratory mucosa. Management is directed to microbial suppression by frequent antibiotic administration, and to clearing of retained secretions. The diagnosis of primary ciliary dyskinesia requires familiarity with the clinical picture and the specific techniques of identification. Although the basic mechanism of disease is known, the molecular genetics of primary ciliary dyskinesia and the causes for the phenotypic variability remain to be explained. Future research should be directed to the identification of the gene(s) responsible for the manifestations of the disease and to effective methods of activation, in vivo, of dysfunctional cilia.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 047071741

Download citation: RISBibTeXText

PMID: 7998657

Related references

Immotile cilia syndrome (primary ciliary dyskinesia) and inflammatory lung disease. Clinics in Chest Medicine 9(4): 657-668, 1988

Primary ciliary dyskinesia, immotile cilia syndrome, and Kartagener syndrome: diagnostic criteria. Schweizerische Medizinische Wochenschrift 126(11): 421-433, 1996

Immotile cilia syndrome and ciliary dyskinesia proposal of a diagnostic protocol. Rivista di Patologia e Clinica della Tubercolosi e di Pneumologia 59(1): 71-86, 1988

Immunostaining of rat and human tracheobronchial cilia with anti-dynein antibody Comparison between normal cilia and diseased cilia in primary ciliary dyskinesia. European Respiratory Journal 7(Suppl. 18): 77S, 1994

Immunohistochemical analysis of rat and human respiratory cilia with anti-dynein antibody: Comparison between normal cilia and pathological cilia in primary ciliary dyskinesia. Virchows Archiv 427(4): 401-406, 1995

The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest 78(4): 580-582, 1980

Ciliary dyskinesis: the immotile cilia syndrome. Laryngoscope 93(5): 573-577, 1983

Ciliary abnormalities in immotile cilia syndrome. Journal of Cell Biology 95(2 Part 2): 321A, 1982

The immotile-cilia syndrome and other ciliary diseases. International Review of Experimental Pathology 19: 1-43, 1979

Ciliary orientation in the immotile cilia syndrome. European Archives of Oto-Rhino-Laryngology 247(2): 100-103, 1990

Heterogeneity of ciliary morphology in the immotile cilia syndrome in man. Journal of Ultrastructure Research 73(1): 34-43, 1980

Acquired ciliary defects compared to those seen in the immotile-cilia syndrome. European Journal of Respiratory Diseases. Supplement 127: 5-10, 1983

Immotile cilia syndrome in three dogs from a litter Congenital ciliary dysfunction. Journal of the American Veterinary Medical Association5, 183(6): 667-672, 1983

"Immotile-cilia" syndrome and ciliary abnormalities induced by infection and injury. American Review of Respiratory Disease 124(2): 107-109, 1981

A morphological study of ciliary abnormalities in patients with immotile cilia syndrome. La Pediatria Medica E Chirurgica 17(5): 411-415, 1995