Kartagener syndrome is a genetic pathology of the ciliary apparatus, leading to the development of chronic rhinosinusitis, bronchitis, bronchiectasis, combined with the reverse location of the organocomplex “heart–lungs”. The disease debuts in infancy and is characterized by frequent purulent-inflammatory processes of the upper and lower respiratory tract. It is diagnosed using radiation methods of examination of the chest organs, biopsy of the mucous membranes of the bronchi or nose. In conservative therapy, antibiotics, corticosteroids, bronchodilators are used. If necessary, surgical operations are performed in the nasal sinuses, partial resection of the lungs.
ICD 10
Q33.8 Q89.3
General information
Kartagener syndrome (Sievert-Kartagener triad, motionless cilia syndrome) refers to hereditary diseases from the group of primary ciliary dyskinesia. One of the first in 1902, the disease was described by the Russian doctor A.K. Sievert. In 1933, the Swiss therapist M. Kartagener studied the triad in detail and proved its hereditary nature. Sievert-Cartagener syndrome is a rare genetic pathology and occurs in 1 newborn on 25 000 – 50 000 children born alive. In 50% of patients with this defect, there is a complete transposition (mirror arrangement) of internal organs. Pathology is often combined with other congenital anomalies (polydactyly, “hare lip”, deaf-mute and others).
Causes
The cause of the Kartagener triad is mutations of genes responsible for the normal functioning of the cilia and flagella of various cells of the human body. Genetic defects are transmitted by an autosomal recessive type of inheritance. Primary ciliary dyskinesia is observed in several members of the same family. The disease manifests itself in half of the carriers of mutant genes. The relatives of the patient may lack one or more signs of the classical triad.
Pathogenesis
Due to a genetic defect, the synthesis of structural proteins of flagella and cilia is disrupted. The patient’s ciliary apparatus is stationary or oscillates asynchronously. In the intrauterine period, due to the incorrect movement of the ciliated epithelium of the embryo, the rotation of the internal organs is not properly performed, which leads to their complete or partial reverse arrangement.
The inability of the atrial epithelium of the respiratory tract to synchronous movement dramatically reduces the drainage function of the respiratory system. Sputum stagnates. When a secondary infection is attached, foci of inflammation easily arise, bronchiectasis forms. Immobility or abnormal oscillation of the cilia of the epithelium lining the paranasal sinuses and the Eustachian tube provokes recurrent sinusitis, eustachiitis and otitis media. The absence or dysfunction of the flagella of spermatozoa complicates their movement and is the cause of a decrease in the ability to fertilize in men.
Symptoms
From the first months of life, children with Kartagener syndrome of fixed cilia have frequent recurrent episodes of runny nose and cough, accompanied by a rise in temperature to febrile figures. Nasal discharge is usually purulent in nature. Often the symptoms of rhinitis are joined by signs of eustachiitis and otitis media. Children experience bursting headaches, pulsating “shooting” pain in the ears.
By the age of 2-3, the child has chronic bronchitis, the cough becomes permanent. Mucopurulent (yellow-green) sputum is separated. The upper respiratory tract obstruction syndrome is added. The patient is periodically disturbed by attacks of painful unproductive cough, shortness of breath during physical exertion. Recurrent pneumonia is protracted. The number of hospitalizations is increasing, the duration of treatment in the hospital is lengthening. Sinusitis also acquires a chronic course. Polyps often grow in the nasal cavity and paranasal sinuses. There is a constant nasal congestion.
Due to chronic oxygen starvation and frequent respiratory infections, the overall development of the child suffers. In such patients, appetite decreases, insufficient body weight is detected, growth retardation. There is general weakness, increased fatigue, learning abilities deteriorate. Cartagener syndrome is often the cause of infertility in adult men.
Complications
Acute respiratory diseases are often found in the younger age group. For this reason, Sievert syndrome is detected worldwide in children mainly at the age of 3.5–4 years. By this time, bronchiectasis has time to form. The consequences of the disease are diverse. Chronic inflammation of the middle ear leads to hearing loss or deafness. Rhinosinusitis, polypous growths in the nose and its paranasal sinuses cause a sharp decrease in the sense of smell. Bronchiectasis is a focus of chronic infection and provokes the development of formidable complications. Patients with the Kartagener triad often develop systemic amyloidosis, pulmonary-cardiac and renal insufficiency is formed. Episodes of hemoptysis often occur.
Diagnostics
Pediatricians are the first to encounter manifestations of the Kartagener triad in young patients. When examining such children, signs of chronic hypoxia can be detected. Lips, nasolabial triangle, fingertips acquire a bluish hue. The distal phalanges of the fingers thicken like drumsticks, the nails take the form of watch glasses (Marie-Bamberger syndrome). For the final confirmation of the diagnosis , the following are performed:
- Physical examination. Percussion reveals a shift of cardiac dullness to the right. During auscultation of the lungs, hard breathing and an abundance of dry and moist small- and medium-bubbly wheezes are heard, which may disappear after coughing. The cardiac impulse and apical tone are determined in the 5th intercostal space to the right of the sternum.
- Radiation diagnostics. The chest X-ray shows the right-sided location of the shadow of the heart, the mirror transposition of the lungs. When examining the nasal sinuses, underdevelopment of the frontal sinuses is often revealed. Computed tomography of the thoracic cavity helps to clarify the localization and prevalence of bronchiectasis.
- Functional research methods. They are auxiliary in nature. On the ECG, dextrocardia is determined – the opposite direction of the main teeth, signs of a pulmonary heart. With spirometry (performed in children from 5 years and older), a decrease in the function of external respiration is detected mainly by an obstructive type.
- Biopsy. The material is taken during the period of remission, not earlier than 4-6 weeks after the relief of the exacerbation. A biopsy of the nasal or bronchial mucosa is examined using electron and light microscopy. Anomalies of the structure of the ciliary apparatus are revealed, the frequency and synchronicity of the oscillations of the cilia are analyzed.
Genetic confirmation of the diagnosis is possible, however, for the syndrome of fixed cilia, such a method of research is considered inappropriate. Pediatric pulmonologists differentiate Kartagener syndrome with cystic fibrosis, cystic hypoplasia of the lungs, bronchiectasis of other etiology, bronchial asthma and primary immunodeficiency conditions.
Kartagener syndrome treatment
A disease of a genetic nature cannot be completely cured. Therapeutic measures are carried out to improve the quality of life of the patient, preserve the ability to work and minimize the consequences. Hereditary syndrome is a multi-organ pathology. Otorhinolaryngologists also take part in the treatment process, and other specialists, if necessary. For the primary selection of basic therapy of pulmonary manifestations, hospitalization in the department of pulmonology is indicated. Long-term conservative management of the patient is carried out. The following main groups of medicines are used:
- Antibacterial drugs. With an exacerbation of bronchopulmonary pathology and purulent-inflammatory processes of the nasal paranasal sinuses, antibiotics are needed. The drug is selected taking into account the sensitivity of microorganisms and is used depending on the patient’s condition orally or parenterally.
- Corticosteroids and bronchodilators. The indication for the appointment of inhaled corticosteroids, beta-adrenomimetics and cholinolytics is bronchospastic syndrome. In case of severe obstruction of the respiratory tract, systemic drugs are used. Topical nasal corticosteroid hormones are recommended when combining polypous sinusitis with allergic rhinitis.
- Mucolytics. Prescribe preventive courses and in the treatment of exacerbations. Preference is given to preparations of carbocysteine, acetylcysteine, ambroxol. Oral administration is recommended. Studies of the use of mucolytics in the treatment of ciliary dyskinesia in pediatrics have proven the ineffectiveness of their inhalation administration.
In the treatment of the Sievert-Kartagener triad, kinesitherapy, chest massage are widely used, if necessary, bronchoalveolar lavage is performed. Sometimes surgical correction is necessary to improve nasal breathing, aeration and drainage of the nasal sinus. In modern otorhinolaryngology, such operations are performed mainly by minimally invasive endoscopic method. Rarely, with pronounced suppurative processes, a section of lung tissue is resected. In severe pulmonary heart failure, simultaneous transplantation of the heart-lung complex is possible.
Prognosis and prevention
The prognosis of the disease depends on the prevalence of bronchiectasis, the presence of a pulmonary heart and other complications. Complete recovery does not occur, but timely diagnosis, strict implementation of medical recommendations can significantly prolong the patient’s life, improve its quality, fully or partially preserve the ability to work.
As a primary prevention, parents of a sick child are recommended to have a genetic examination before planning a new pregnancy. The patient needs to receive a full-fledged high-calorie diet, lead a healthy lifestyle. To prevent exacerbations, daily irrigation therapy is indicated – washing the nose and throat with saline solution. Course rehabilitation measures are prescribed. Seasonal preventive vaccination against pneumococcus and influenza is desirable.