Kartagener's syndrome is a rare congenital disease caused by impaired motility of cilia located on the surface of many epithelial cells. In its full form, this defect is clinically manifested by a triad of symptoms:
- bronchiectasis;
- underdevelopment (hypoplasia) of the paranasal sinuses, which is accompanied by recurrent sinusitis;
- reverse arrangement of internal organs (situs inversus).
The syndrome is named after the Swiss physician Kartagener, who gave a detailed description of the condition in 1933. Now let's discuss the disease in more detail.
Causes of Kartagener's Syndrome
Currently, it has been proven that Kartagener's syndrome has a genetic nature with an autosomal recessive type of inheritance. The disease is based on defects in a number of genes that encode certain proteins that are designed to provide the function of cilia.
As a result, their mobility is reduced or lost altogether - a condition called "primary ciliary dyskinesia" occurs. More than twenty genes responsible for the development of Kartagener's syndrome have been studied. Violation inthe work of any of them in the period of intrauterine development can lead to pathology.
How common is the disease?
As mentioned above, Kartagener syndrome in children is quite rare - only one newborn in 16,000.
It should be noted that in babies the pathology may not manifest itself in any way, and the diagnosis is made only after several months and even years, when a vivid clinical picture develops.
Symptoms of Kartagener's Syndrome
External manifestations of Kartagener's syndrome vary from complete absence of symptoms to a pronounced clinical picture.
In the case of an asymptomatic course, the correct diagnosis is extremely difficult and most often occurs by accident when a reverse location of the internal organs is detected during an examination for some other disease.
Bronchiectasis
Normally, the bronchial tree (the main frame of the lungs) looks like branching tubules with a uniform decrease in the diameter of their lumen in the direction from the overlying sections to the underlying ones, which resembles an inverted crown.
Bronchiectasias (or bronchiectasis) are local expansions of the bronchial lumen in the form of bags, spindles or cylinders. In such deformed bronchi, the normal movement of the secret becomes impossible. It stagnates, which inevitably leads to infection and the development of an inflammatory reaction.
Clinically, bronchiectasis in Kartagener's syndrome is manifested by a cough with discharge of greenish purulentsputum, fever up to 38 degrees and above, weakness, headache, sometimes nausea and vomiting can join. Powerful antibiotic therapy allows you to achieve external recovery, but such drugs will not be able to eliminate the main cause of inflammation - local expansion of the bronchi. Therefore, the described clinical picture is repeatedly repeated, alternating with "light" asymptomatic intervals. It acquires a long and protracted flow. The chronic relapsing course of this condition is commonly referred to as bronchiectasis.
Sinusitis
Another manifestation of Kartagener's syndrome is sinusitis, or inflammation of the paranasal sinuses. Normally, the cilia of the epithelium of the mucous membrane of the nose and sinuses, due to their vibrations, ensure the movement of the secret with dust particles and bacteria that have settled on it. In Kartagener's syndrome, the function of the cilia is impaired, and the contents stagnate in the paranasal sinuses, causing inflammation.
Most often develops sinusitis, or inflammation of the maxillary sinuses, less often - frontal sinusitis (frontal sinus), ethmoiditis (cells of the ethmoid labyrinth) and sphenoiditis (sphenoid sinus). All these conditions are manifested by fever, headache and runny nose with the release of pus. Sinusitis is also characterized by pain on the sides of the wings of the nose and in the cheekbones.
Reverse internal organs
The reverse arrangement of the internal organs, or situs viscerusim versus is the most characteristic manifestation of the syndromeKartagener, which, however, occurs in less than half of the patients. There is a movement of internal organs according to the type of their mirror image. Allocate complete and incomplete reverse arrangement of internal organs.
In case of incomplete reversal, the lungs change places. This may be accompanied by a kind of mirror image of the heart with a displacement of its apex to the right half of the chest cavity (dextrocardia).
At the full reverse position, there is a mirror movement of all internal organs. In this case, the liver is located on the left, the spleen - on the right. Accidental detection of this pathology during ultrasound during a routine examination and allows suspecting Kartagener's syndrome in its asymptomatic course.
The reverse arrangement of the internal organs is due to a violation of the migration of embryonic cells and tissues in embryogenesis. Many organs normally do not develop in the place where they are after birth. So, the kidneys are laid in the pelvic area and gradually rise up to the level of the XI-XII ribs.
Movement (or migration) of organs in the prenatal period is carried out by cilia, which do not function in Kartagener's syndrome, which causes the reverse arrangement of internal organs. Fortunately, no matter how threatening this condition looks, in the vast majority of cases it does not lead to significant impairment of the body's vital functions.
Other manifestations of Kartagener's syndrome
Among other symptoms of the disease, the most importantis male infertility. It is caused by immobility of sperm due to the fact that their flagella do not function.
Patients may also experience recurrent otitis media and hearing loss. This is due to the stagnation of the secret in the middle ear, which normally should be removed by the cilia of the epithelial cells of the mucous membrane.
Diagnosis of Kartagener syndrome in children
If a child, starting from about a month old, regularly suffers from pneumonia, runny nose and sinusitis, Kartagener's syndrome should be suspected, the diagnosis of which is not very difficult. It includes a number of instrumental and laboratory research methods:
- Physical examination, or a routine medical examination, will reveal difficulty in nasal breathing, a specific auscultatory picture from the lungs and heart, as well as a change in the terminal phalanges of the fingers like "drumsticks" with a long course of the process.
- X-ray examination will reveal pathological foci in the lungs and the reverse location of the heart (dextrocardia). This method is simple and safe enough, therefore, it makes it possible to diagnose Kartagener's syndrome in the maternity hospital.
- Bronchoscopy is the most accurate examination method for detecting bronchiectasis. Moreover, only through bronchoscopy can a biopsy of the bronchial mucosa be taken.
- A mucosal biopsy will show the severity of the inflammatory process and assess the structure of the cilia.
Top clinics andUniversities of the world have been discussing Kartagener's syndrome for quite a long time, the photos of which are presented in this article. The experience of the most famous specialists makes it possible to train the younger generation of doctors to recognize such a rare disease.
Treatment of Kartagener's Syndrome
Is it possible to get rid of this condition? Currently, treatment for Kartagener syndrome depends on the symptoms. There are no drugs that would restore the function of the cilia of epithelial cells, however, modern medicine has a rich arsenal of tools that alleviate the course of the disease. With their help, the patient can forget about his rare disease for a long time.
Main treatments:
- Antibiotics. These drugs are prescribed for inflammation of the lungs due to bronchiectasis, and for sinusitis. Classical antibiotics of the penicillin series, macrolides, as well as drugs from the group of "respiratory" fluoroquinolones are used.
- Methods that improve bronchial drainage - postural drainage, massage, use of mucolytic and mucokinetic drugs, etc.
- Physiotherapy.
In the presence of pronounced bronchiectasis with often recurrent bronchitis and pneumonia, surgical treatment is indicated - removal (resection) of the most affected area of the lung. After such an operation, the condition of patients improves significantly.
