Kartagener's syndrome in children: diagnosis, photo, treatment

Kartagener's syndrome is a rare congenital disease caused by impaired mobility of cilia located on the surface of many epithelial cells. In its full form, this vice 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 doctor Kartagenera, who gave a detailed description of this condition in 1933. And now let's discuss the disease in more detail.

Causes of Kartagener's syndrome

At present, it is proved that Cartagena'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 code for certain proteins that are designed to provide ciliary functions.

As a result, their mobility decreases or is lost altogether - a condition called "primary ciliary dyskinesia" appears. More than twenty genes responsible for the development of the Kartagener syndrome have been studied. Violation of any of them in the period of intrauterine development may lead to pathology.

How often does the disease occur?

As it was said above, Kartagener's syndrome in children is rare enough, only for one newborn out of 16,000.

It should be noted that in children, pathology can not manifest itself at all, and the diagnosis is made only after several months and even years, when a vivid clinical picture develops.

Symptoms of the Kartagener syndrome

External manifestations of the syndrome of Kartagener vary from a complete absence of symptoms to a pronounced clinical picture.

In the case of asymptomatic flow, the setting of a correct diagnosis is extremely difficult and occurs most often accidentally when a reverse location of the internal organs is found during a survey for some other disease.

Bronchiectasis

Normally, the bronchial tree (the basic framework of the lungs) has the form of branching tubes with a uniform decrease in the diameter of their lumen in the direction from the overlying sections to the underlying ones, which resembles a crown turned upside down.

Bronchiectasis (or bronchiectasis) is a local dilatation of the lumen of the bronchi by the type of bags, spindles or cylinders. In such deformed bronchi, normal secretion becomes impossible. He stagnates, which inevitably leads to infection and the development of an inflammatory reaction.

Clinically, bronchiectasis in Kartagener's syndrome manifests as a cough with the withdrawal of greenish purulent sputum, an increase in body temperature of up to 38 degrees and higher, weakness, headache, and sometimes nausea and vomiting may occur. Strong antibiotic therapy allows for an external recovery, but such drugs can not eliminate the main cause of inflammation-the local enlargement of the bronchi. Therefore, the described clinical picture is repeated many times, alternating with "light" asymptomatic intervals. It acquires a long and protracted nature of the current. Chronic recurrent course of this condition is commonly called bronchoectatic disease.

Sinusitis

Another manifestation of the syndrome of Kartagener is sinusitis, or inflammation of the paranasal sinuses. Normally, the cilia of the epithelium of the nasal mucosa and sinuses, due to their oscillations, ensure the movement of the secret with dust particles and bacteria settled on it. In the syndrome of Kartagener, 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 (frontal sinus), etmoiditis (cells of the latticed maze) and sphenoiditis (sphenoid sinus). All these conditions are manifested by an increase in body temperature, a headache and a runny nose with the release of pus. Genyanth is also characterized by pain on the sides of the wings of the nose and in the area of the cheekbones.

Reverse location of internal organs

Reverse arrangement of internal organs, or situs viscerusim versus is the most characteristic manifestation of the Kartagener syndrome, which, however, occurs in less than half of the patients. The internal organs move according to the type of their mirror image. Allocate full and incomplete reverse arrangement of internal organs.

With an incomplete reverse arrangement, the lungs change places. This may be accompanied by a mirror image of the heart with a shift of its apex to the right side of the chest cavity (dextrocardia).

With a complete reverse arrangement, all internal organs are mirrored. The liver is located on the left, the spleen is on the right. The accidental detection of this pathology with ultrasound during a routine examination and allows you to suspect the syndrome of Kartagener in its asymptomatic course.

The reverse location of internal organs is explained by the violation of migration of embryonic cells and tissues in embryogenesis. Many organs normally develop not 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 XI-XII ribs.

The movement (or migration) of organs in the prenatal period is due to cilia, which, in the case of the Kartagener syndrome, do not function, which causes the internal organs to reverse. Fortunately, no matter how threatening this state is, it in the overwhelming majority of cases does not lead to significant disturbances in the vital activity of the organism.

Other manifestations of Kartagener's syndrome

Among the other symptoms of the disease, the most important is male infertility. It is caused by the immobility of spermatozoa due to the fact that their flagella do not function.

Patients may also be bothered by recurrent otitis media and hearing loss. This is due to the stasis of secretion in the middle ear, which should normally be removed by the cilia of the epithelial cells of the mucous membrane.

Diagnosis of the syndrome of Kartagener in children

If a child, starting about a month old, regularly suffers from pneumonia, runny nose and sinusitis, it is necessary to suspect the Kartagener syndrome, the diagnosis of which is not very complicated. It includes a number of instrumental and laboratory research methods:

• A physical examination, or a routine physical examination, will reveal the difficulty of nasal breathing, a specific auscultatory pattern from the lungs and heart, as well as the change in terminal phalanges of fingers like "drum sticks" in the 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 sufficiently safe, so it makes it possible to diagnose the syndrome of Kartagener in the hospital.
• Bronchoscopy is the most accurate method of examination for the detection of bronchiectasias. Moreover, only by means of a bronchoscopy it is possible to take a biopsy of the bronchial mucosa.
• A biopsy of the mucosa will show the severity of the inflammatory process and will assess the structure of the cilia.

Leading clinics and universities around the world have been discussing the Cartagena syndrome for a long time, the photo of which is presented in this article. The experience of famous specialists allows us to train a young generation of doctors to recognize such a rare disease.

Treatment of Kartagener's syndrome

Is it possible to get rid of this condition? Currently, the treatment of Kartagener's syndrome depends on the symptoms. There are no drugs that would restore the function of cilia of epithelial cells, but modern medicine has a rich arsenal of funds that facilitate the course of the disease. With their help, the patient can forget about his rare illness for a long time.

The main methods of treatment:

• Antibiotics. These drugs are prescribed for pneumonia due to bronchiectasias, and with sinusitis. Classical antibiotics of penicillin series, macrolides, as well as preparations from the group of "respiratory" fluoroquinolones are used.
• Methods that improve the drainage function of the bronchi - postural drainage, massage, the use of mucolytic and mukokinetic drugs, etc.
• Physiotherapy.

In the presence of severe bronchiectasises with frequently relapsing bronchitis and pneumonia, surgical treatment is shown - removal (resection) of the most affected part of the lung. After such an operation, the patients' condition improves significantly.