Primary ciliary dyskinesia and Kartagener syndrome

August 12, 2017 17:51 | Genetic Diseases

Primary ciliary dyskinesia (called stereocilia syndrome) is a group of diseases, which are based on genetically determined defect in the structure of the ciliated epithelium of the respiratory tract mucosa.For the first time this defect has been described in patients with Kartagener syndrome.

Kartagener syndrome - a triad that includes reverse arrangement of internal organs, bronchiectasis and sinusitis.

genetically determined defect in the structure of the cilia of ciliated epithelium is found occasionally in patients with bronchitis, bronchiectasis, obstructive lung diseases of internal organs without the return location.Thus, Kartagener syndrome is only one form of primary ciliary dyskinesia.It accounts for about 50% of this pathology.Inheritance is autosomal recessive with a 50% severity of the abnormal gene.However ciliary defects can be the result of a new mutation.

Currently reported in the literature for more than 20 different ciliary defects.However, sometimes mixed view of primary, genetical

ly determined defects, and ciliary secondary disorders caused by various pathological effects, including inflammation.In patients with chronic inflammatory diseases of the respiratory system more consistently detected membrane changes, deformation and thickening of the cilia, the cilia of ciliated epithelium atrophy with the development of the free surface of the ciliated cells of the microvilli, cilia combining several common membrane.These changes are a consequence of inflammation, the severity of inflammation depends on the activity flow.

Congenital defect of cilia structure and violation of their functions relating to the entire respiratory tract in general.This is the reason of formation in patients with primary ciliary dyskinesia, along with bronchiectasis and bronchitis, sinusitis, otitis.

clinical symptoms of primary ciliary dyskinesia determines pathology of bodies lined with ciliated epithelium.The clinical picture of primary ciliary dyskinesia is characterized by sufficient and manifests a total lesion of the respiratory tract with the early appearance of the first symptoms of the disease.Lung lesions are usually detected during the first days of life of a child, and is generally regarded as pneumonia.

chronic bronchopulmonary process in 90% of patients with Kartagener syndrome develops in the first 2 years of life.Patients with primary ciliary dyskinesia complain of cough with purulent sputum, often in large numbers.The lungs are constantly bugged wet and dry rales.

The clinical picture of the disease is very important defeat the nasopharynx.From the first days of life are marked purulent nasal discharge, difficulty in nasal breathing.In a study of upper respiratory tract sinusitis is diagnosed most often affects the maxillary sinuses (sinusitis).Many patients suffer from chronic otitis.Hearing these patients are 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 found nasal polyps.During the inflammatory process in the bronchopulmonary system and in the nasopharynx of patients with primary ciliary dyskinesia is characterized by high activity, which determines the severity of the disease in many respects.Many children with primary ciliary dyskinesia is largely behind in physical development.In the most severe of which is marked thickening of the nail phalanges.Clinical manifestations of respiratory failure observed in the bilateral lung lesions disseminated.Functional studies reveal violations of ventilation Obstructive and restrictive.When X-ray examination of the defining characteristics of a chronic inflammatory process that wears off portions of the lung tissue, reducing the amount of lesions of the lung tissue.In patients with Kartagener syndrome have a reverse arrangement of the internal organs.When bronhografii detected bronchiectasis, as well as deforming bronchitis, which are mostly prevalent.Sometimes bronchial distortion is not detected at all.Kartagener's syndrome found the lung malformations - polycystic hypoplasia (underdevelopment).In these cases, it is a combination of various congenital defects of the respiratory system.

To confirm the presence of primary ciliary dyskinesia is necessary binding definition of the structure and function of cilia of ciliated epithelium of the mucous membrane of the respiratory tract.When primary ciliary dyskinesia movement of the cilia is absent.

Treatment of primary ciliary dyskinesia case directed at suppressing the inflammatory process in the lungs and nasopharynx.Much attention is paid to the systematic use of methods and tools aimed at maintaining the drainage function of bronchi.These methods include postural drainage, physiotherapy, therapeutic bronchoscopy, inhalation drugs, contributing to thinning sputum.Due to the generalized disease at a given defect surgery is usually ineffective.