Clinical Presentations of Immotile Cilia Syndrome

Sun, Yong Han; Lee, Myung Hyun; Koh, Young Yull; Chi, Je Geun

Abstract

PURPOSE
Immotile cilia syndrome is a disorder characterized by chronic respiratory tract disease beginning in early childhood and leading to chronic bronchitis and/or bronchiectasis, accompanied by chronic rhinitis and/or sinusitis and otitis media as well as in fectility in the male. It is a genetically determined disorder characterized by immotility or poor motility of the ubiquitous cilia. The purpose of this study is to analyze those clinical features of immotile cilia syndrome confirmed by electron-microscopic examination.
METHODS
We carried out the retrospective study on 15 patients who had been admitted at Seoul National University children's hospital from January 1986 to November 1994 and diagnosed as immotile cilia syndrome.
RESULTS
1) In all 15, there were 10 men and 5 women from 6 to 16 years of age. Fourteen presented dynein arm defect and one showed isolated microtubualr translocation. There were five combined cases. Of the 15 subjects, two families were involved. 2) Clinical symptoms and signs were cough, rhinorrhea, nasal obstruction, otalgia, and hearing impairment. All patients complained of some productive cough. 3) Nearly all patients presented chronic and recurrent sinobronchial diseases. But the prevalences of dextrocardia and otitis media were lower than previous reports.
CONCLUSIONS
Chronic and recurrent respiratory diseases, especially in childhood, should alert the clinician to the possibility that immotile cilia syndrome may be the underlying problem.