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

Carthage syndrome is a rare congenital disease due to 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 the syndrome of Kartagenera

It has now been proven that Cartagena's syndrome is of 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 called to provide the functions of the cilia.

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 common is the disease?

As it was said above, Kartagener's syndrome in children is rare enough-only in one newborn out of 16000.

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

Symptoms of the Kartagener syndrome

External manifestations of the syndrome of Kartagener vary from 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 detected during a test for some other disease.

Bronchiectasis

Normally, the bronchial tree( the basic framework of the lungs) has the form of 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.

Bronchiectasis( or bronchiectasis) is a local dilatation of the lumen of the bronchi by the type of sacks, 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 itself as a cough with the departure 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 fluctuations, ensure the movement of the secret with the particles of dust and bacteria that have 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.

The genyantritis or inflammation of the maxillary sinuses develops most often, rarely - the frontal sinus( 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. Genyanthritis is also characterized by pain on the sides of the wings of the nose and in the area of ​​the cheekbones.

Reverse arrangement of internal organs

Reverse arrangement of internal organs, or situs viscerusim versus is the most typical manifestation of the Kartagener syndrome, which, however, occurs in less than half of 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 position, the lungs change places. This may be accompanied by a mirror image of the heart with a shift of its apex in the right side of the chest cavity( dextrocardia).

With full 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 arrangement 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 carried out at the expense of 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 vast majority of cases does not lead to significant disturbances in the vital activity of the organism.

Other manifestations of the syndrome of Kartagenera

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

Patients may also be concerned about recurrent otitis 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 Kartagener's syndrome in children

If a child, starting at about a month of age, regularly suffers from pneumonia, rhinitis and sinusitis, the Kartagener syndrome should be suspected, the diagnosis of which is not very complicated. It includes a number of instrumental and laboratory methods of investigation:

• Physical examination, or routine medical examination, will reveal the difficulty of nasal breathing, a particular auscultatory pattern from the lungs and heart, as well as the change in terminal phalanges of fingers like "drum sticks" in the long courseprocess.
• 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 mucosal biopsy 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 Kartagener's 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 the syndrome of Kartagener

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 the 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, use of mucolytic and mukinetic 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.