Primary ciliary dyskinesia and kartagener syndrome
Primary ciliary dyskinesia( the so-called fixed ciliary syndrome) is a group of diseases that are based on a genetically determined defect in the structure of the ciliated epithelium of the mucosal respiratory tract. This defect was first described in patients with Kartagener's syndrome.
Cartagner syndrome is a triad, involving the reverse arrangement of internal organs, bronchiectasis and sinusitis.
A genetically determined defect in the structure of the cilia of the ciliated epithelium is sometimes found in patients with bronchitis, bronchiectasis, and obstructive pulmonary disease without the reverse arrangement of internal organs. Thus, Cartagena's syndrome is only one form of primary ciliary dyskinesia. He accounts for about 50% of this pathology. The type of inheritance is autosomal recessive with a 50% severity of the pathological gene. However, ciliary defects can be the result of a new mutation.
Currently, more than 20 different ciliary defects are reported in the literature. However, sometimes the idea of primary, genetically determined defects and secondary ciliary disorders caused by various pathological influences, including inflammatory process, is sometimes mixed. In patients with chronic inflammatory diseases of the bronchopulmonary system, changes in membranes, deformation and thickening of the cilia, ciliated ciliary epithelium atrophy with the development of ciliated cells of microvilli on the free surface, the association of several cilia with a common membrane are revealed with great persistence. These changes are a consequence of the inflammatory process, their severity depends on the activity of the inflammation.
Congenital defect in the structure of the cilia and a violation of their function affect the entire respiratory tract as a whole. This is the reason for the formation of sinusitis and otitis in patients with primary ciliary dyskinesia, along with bronchiectasis and bronchitis.
Clinical symptoms of primary ciliary dyskinesia are determined by the pathology of organs lined with ciliated epithelium. The clinical picture of primary ciliary dyskinesia is quite typical and manifests itself as a total lesion of the respiratory tract with the early appearance of the first symptoms of the disease. Lung inflammation, as a rule, is detected in the first days of a child's life and is usually treated as pneumonia.
Chronic bronchopulmonary process in 90% of patients with Kartagener's syndrome develops in the first 2 years of life. Patients with primary ciliary dyskinesia complain of a cough with the separation of purulent sputum, often in a significant amount. In the lungs, wet and dry rattles are constantly being listened.
In the clinical picture of the disease, nasopharyngeal involvement is of great importance. From the first days of life, there are purulent discharge from the nose, difficulty in nasal breathing. When examining ENT organs, sinusitis is diagnosed, the maxillary sinus( maxillary sinusitis) is most often affected. Many patients suffer from chronic otitis media. The hearing in these patients is often reduced. The clinical triad, including bronchitis, sinusitis, otitis media, is the most characteristic clinical manifestation of primary ciliary dyskinesia.
Approximately 20% of patients with primary ciliary dyskinesia syndrome have nasal polyps. The course of the inflammatory process in the bronchopulmonary system and in the nasopharynx in patients with primary ciliary dyskinesia is highly active, which largely determines the severity of the disease. Many children with primary ciliary dyskinesia are significantly behind in physical development. The heaviest of them marked thickening of the nail phalanges of the fingers. Clinical manifestations of respiratory failure are observed in bilateral bilateral lung involvement. Functional studies reveal ventilation disorders of obstructive and restrictive type. When X-ray examination determined signs of chronic inflammation, areas of falling lung tissue, a decrease in the volume of affected areas of lung tissue. Patients with Kartagener's syndrome have a reverse arrangement of internal organs. With bronchography, bronchial dilatations, as well as deforming bronchitis, are revealed, which for the most part are common. Sometimes deformation of the bronchi is not detected at all. In the syndrome of Kartagener there are malformations of the lungs - polycystosis, hypoplasia( hypoplasia).In these cases, we are talking about a combination of various birth defects of the respiratory system.
To confirm the presence of primary ciliary dyskinesia, it is necessary to determine the structure and function of the cilia of the ciliated epithelium of the mucous membrane of the respiratory tract. With primary ciliary dyskinesia , there is no ciliary movement.
Treatment in the case of primary ciliary dyskinesia is aimed at suppressing the inflammatory process in the lungs and nasopharynx. Much attention is given to the systematic use of methods and tools aimed at maintaining the drainage function of the bronchi. Such methods include postural drainage, therapeutic physical training, medical bronchoscopy, inhalation of drugs that promote liquefaction of sputum. In connection with the presence of a generalized defect in this disease, surgical treatment, as a rule, is ineffective.