Kartagenera Syndrome

CARTAGENERA SYNDROME, a disease from the group of primary ciliary dyskinesias, in which there is a congenital or acquired disorder of the movement of the cilia of the goblet cells of the epithelium of the bronchi and glands of the stomach, intestines, bladder, vermiform appendix, ducts of the sweat and sebaceous glands, and epididymis. The disease is mainly associated with a mutation in the _CFTR_ gene, although it may be

Kartagener syndrome is a genetically determined disease that is characterized by impaired movement of the cilia of epithelial cells lining the surface of the bronchi, stomach and intestines.

Main symptoms: chronic cough, shortness of breath, wheezing when breathing, hypotension and facial cyanosis. These symptoms can be either nonspecific (that is, appear in other diseases) or directly indicating Kartagener syndrome. Diagnosis is carried out through respiratory function of the lungs and other research methods. Treatment is based on the prescription of specific bronchodilators, antibiotics, and mucolytic drugs. The prognosis of the disease depends on the severity of the symptoms, however, in most cases, restoring respiratory functions and preventing complications is not possible. The most effective treatment method is considered to be a bone marrow transplant, which allows to restore the function of cellular “chemoreceptors” and stabilize the movements of the cilia.

Briefly:

* Kartagener's syndrome is a chronic hypoventilation of the lungs, which is associated with a congenital abnormality of the respiratory tract.

De facto:

Cartagena syndrome is a hereditary disease characterized by disruption of the structure and function of the respiratory system. The disease was first described in 1951 by the Swiss physician Wilhelm Cartagena, which served as the name for the syndrome. The disease is associated with a defect in the mucolytic epithelium, which covers the mucous membrane of the trachea, bronchi and acinus. This leads to disruption of mucus secretion, a decrease in its viscosity and the viscosity of sputum, which prevents the normal functioning of the lungs. As a result, a person becomes susceptible to frequent respiratory diseases such as bronchitis and pneumonia. In the absence of appropriate treatment, the disease can lead to the development of chronic severe respiratory failure. Treatment consists of the use of mucolytic drugs, as well as special methods of increasing the functionality of the respiratory system (for example, hyperbaric oxygenation). Cartagena syndrome is a rare genetic disorder. It leads to abnormal breathing and multiple respiratory tract infections. Lung damage and other serious complications make life more difficult for patients with the syndrome. People with this syndrome may suffer from frequent infections and develop chronic lung diseases such as asthma and chronic bronchitis. We must maintain public awareness of this disease and let people know that they are the only people diagnosed with it. They should also talk to their doctors about what treatments are right for them to improve their quality of life and make it more fulfilling.

More details: - Cartagena syndrome occurs with a frequency of about 1 case per million newborns. The cause of this disease is believed to be an abnormality of the MUC5B gene, which is reflected in the defective structure of proteins on the surface of the cells of the mucous membrane of the lower respiratory tract associated with mucosillation. These proteins promote mucus production and its functions in normalizing fluidity and inflammation in the pulmonary tract. The abnormal structure of these proteins can lead to a decrease in the mucosylating activity of respiratory tract cells and, accordingly, disruption of respiratory function.