Immotile cilia syndrome- Kartagener type
Overview
A rare genetic disorder characterized by enlarged bronchial tubes, sinusitis and cross-positioning of body organs.
Symptoms
The list of signs and symptoms mentioned in various sources for Kartagener syndrome includes the 18 symptoms listed below: * Cross-postiioning of body organs * Partial situs inversus * Complete situs inversus * Cardiac septation defects * Asplenia * Absence of frontal sinus development * Lack of aeration of mastoids * Conductive deafness * Folliculitis * Nummular eczema * Pyoderma gangrenosum * Communicating hydrocephalus * Dull headaches * Depression * Schizophrenia * Thyrotoxicosis * Chronic enlargement of bronchial tubes * Thick respiratory tract mucus
Causes
Because of the availability of antibiotics to treat acute respiratory tract infections, the incidence of bronchiectasis has dramatically decreased in the past 20 years. Incidence is highest among Eskimos and the Maoris of New Zealand. It affects people of both sexes and all ages. The different forms of bronchiectasis may occur separately or simultaneously. In cylindrical bronchiectasis, the bronchi expand unevenly, with little change in diameter, and end suddenly in a squared-off fashion. In varicose bronchiectasis, abnormal, irregular dilation and narrowing of the bronchi give the appearance of varicose veins. In saccular bronchiectasis, many large dilations end in sacs. These sacs balloon into pus-filled cavities as they approach the periphery and are then called saccules. (See Forms of bronchial dilatation, page 560.) This disease results from conditions associated with repeated damage to bronchial walls and abnormal mucociliary clearance, which cause a breakdown of supporting tissue adjacent to airways. Such conditions include: * cystic fibrosis * immunologic disorders (agammaglobulinemia, for example) * recurrent, inadequately treated bacterial respiratory tract infections, such as tuberculosis, and complications of measles, pneumonia, pertussis, or influenza * obstruction (by a foreign body — most common in children, tumor, or stenosis) in association with recurrent infection * inhalation of corrosive gas or repeated aspiration of gastric juices into the lungs * congenital anomalies (uncommon), such as bronchomalacia, congenital bronchiectasis, immotile cilia syndrome, and Kartagener’s syndrome, a variant of immotile cilia syndrome characterized by situs inversus, bronchiectasis, and either nasal polyps or sinusitis. In bronchiectasis, hyperplastic squamous epithelium denuded of cilia replaces ulcerated columnar epithelium. Abscess formation involving all layers of the bronchial wall produces inflammatory cells and fibrous tissue, resulting in dilation and narrowing of the airways. Mucus plugs or fibrous tissue obliterates smaller bronchioles, whereas peribronchial lymphoid tissue becomes hyperplastic. Extensive vascular proliferation of bronchial circulation occurs and produces frequent hemoptysis.
Treatment
Treatment includes antibiotics, given orally or I.V., for 7 to 10 days or until sputum production decreases. Bronchodilators, combined with postural drainage and chest percussion, help remove secretions if the patient has bronchospasm and thick, tenacious sputum. Bronchoscopy may be used to remove obstruction and secretions. Hypoxia requires oxygen therapy; severe hemoptysis commonly requires lobectomy, segmental resection, or bronchial artery embolization if pulmonary function is poor. Long-term antibiotic therapy isn’t appropriate because it may predispose the patient to serious gram-negative infections and resistant organisms.