ABSTRACT
Kartagener's syndrome is an inherited condition characterized by triad of chronic paranasal sinusitis, situs inversus, and bronchiectasis. Since 1976, Afzelius found a lack of dynein arm in immotile spermatozoa by electron microscopy, numerous recent studies have focused on the ultrastructural defect in the cilia and reported that the variety type of ultrastructural defect in immotile cilia syndrome. We report a female patient who had the Kartagener's triad with rare multiple ultrastructural defect of cilia in one patient. The electron microscopic examination showed partial dynein arm defect, loss of radial spoke, microtubular transposition, and giant cilia.
Subject(s)
Female , Humans , Arm , Bronchiectasis , Cilia , Ciliary Motility Disorders , Dyneins , Kartagener Syndrome , Microscopy, Electron , Sinusitis , Situs Inversus , SpermatozoaABSTRACT
Immotile cilia syndrome is an inherited disorder characterized by specific ultrastructural defects of cilia and associated impairment of ciliary motion and mucociliary clearance. Disorders of ciliary structure or function result in chronic sinopulmonary diseases manifested as chronic sinusitis, bronchitis, otitis media, nasal polyposis, and ultimately bronchiectasis. In addition, situs inversus, dextrocardia, and infertility can be associated with dysfunctional ciliary activity. We experienced a case of immotile cilia syndrome presenting with recurrent bronchitis, pneumonia, chronic sinusitis, otitis media, and bronchiectasis. She was diagnosed by lack of dynein inner arm on electron microscopy. Treatment included chest percussion, bronchodilators, antibiotics, and surgical intervention. She has been followed up at regular intervals. We report this case with related literatures.
Subject(s)
Anti-Bacterial Agents , Arm , Bronchiectasis , Bronchitis , Bronchodilator Agents , Cilia , Ciliary Motility Disorders , Dextrocardia , Dyneins , Infertility , Microscopy, Electron , Mucociliary Clearance , Otitis Media , Percussion , Pneumonia , Sinusitis , Situs Inversus , ThoraxABSTRACT
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.
Subject(s)
Female , Humans , Male , Arm , Bronchiectasis , Bronchitis, Chronic , Cilia , Ciliary Motility Disorders , Cough , Dextrocardia , Dyneins , Earache , Hearing Loss , Nasal Obstruction , Otitis Media , Prevalence , Respiratory Tract Diseases , Retrospective Studies , Rhinitis , Seoul , SinusitisABSTRACT
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.
Subject(s)
Female , Humans , Male , Arm , Bronchiectasis , Bronchitis, Chronic , Cilia , Ciliary Motility Disorders , Cough , Dextrocardia , Dyneins , Earache , Hearing Loss , Nasal Obstruction , Otitis Media , Prevalence , Respiratory Tract Diseases , Retrospective Studies , Rhinitis , Seoul , SinusitisABSTRACT
BACKGROUND: Several studies have suggested that impaired mucociliary clearance plays a role in the pathophysiology of bronchial asthma. Cough productive of mucoid sputum is common, and mucous plugs in the airways are frequently observed. These clinical features are in keeping with the histologic lesions of asthma, which involve primarily the epithelial and mucous-producing structures of the conducting airways. Some studies have shown that the mucociliary clearance is impaired in adult asthma, but it has not been studied in childhood asthma. The objectives of this study were to examine whether the mucociliary clearance is impaired in childhood asthma and to estimate the degree of impairment in comparison with that of immotile cilia syndrome. METHOD: Thirteen children with mild stable asthma and eight patients with immotile cilia syndrome completed this study. Ten healthy children were recruited as a normal control group. The whole-lung mucociliary clearance was measured by the radioaerosol technique. Aerosols, tin colloid particles tagged with the radionuclide technetium-99m(99mTc), were generated by means of nebulizer, and inhaled via a mouthpiece. The retention of radioactivity was measured at 30, 60, 90 and 120 minutes by gamma camera, and mucociliary clearance was calculated as percent retention at each time. RESULTS: 1) In each subject, the percent retention decreased variably with the lapse of time. 2) The percent retention of radionuclide decreased at each time in order of normal control, bronchial asthma and immotile cilia syndrome and the percent retention of immotile cilia syndrome was significantly higher than that of normal control at each time(p<0.05). 3) At two hours, the percent retention of bronchial asthma(65.0 1.8(SE)%) was significantly higher than that of the normal control(54.4 3.5%, p<0.05), and significantly lower than that of immotile cilia syndrome(73.3 +/- 1.4%, p<0.01). 4) When the percent retention was analyzed according to PC20 in the children with bronchial asthma, they had no relationship with each other. CONCLUSION: Mucociliary clearance in the children with bronchial asthma was significantly lower than normal control. This finding indicates that impaired mucociliary clearance operates in childhood asthma as well, and suggests that it may be one contributing factor in the pathogenesis of asthma. The degree of impairment, however, was not so severe as immotile cilia syndrome.
Subject(s)
Adult , Child , Humans , Aerosols , Asthma , Cilia , Ciliary Motility Disorders , Colloids , Cough , Gamma Cameras , Mucociliary Clearance , Nebulizers and Vaporizers , Radioactivity , Sputum , TinABSTRACT
Immotile cilia syndrome is a genetically determined disorder characterized by immotility or poor motility of the cilia in the airways and elsewhere. Since its first description in 1976 determination of a ciliary abnormality has now clarified its variable expression and pleiotropism. Certain specific defects in the ciliary axoneme can be found and are pathognmoic of the syndrome. These defects include missing dynein arms, abnormally short dynein, arms, spokes with no central sheath, missing central microtubules, and displacement of one of the nine peripheral doublets. We have studied 80 cases of bronchial or nasal mucosal biopsies that were performed with the suspicion of immotile cilia syndrome. Of 80 cases only 17 cases were sampled optimally to be able to observe under transmission and scanning electron microscopes. All 17 cases had certain abnormality of the cilia. They consisted of Ia(3 cases), Ib(3 cases), Id only(3 cases) and Id+other types(6 cases) a according to Sturgess classification. Seven cases consisted of 1 solitary and 6 combined form; II+Id(1 case) and II+Id+III(5 case). All 5 cases of type III were combined with Id and II. Clinically most pronounced manifestations were cough(82%), sputum(59%), rhinorrhea(41%) and nasal stuffiness(35%), All the patients were below the age of 15 years, and there were 6 boys and 11 girls.