Kartagener syndrome is a rare congenital disease caused by a violation of the mobility of the cilia located on the surface of many epithelial cells. In 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 location of internal organs (situs inversus).
The syndrome is named after the Swiss doctor Kartagener, who gave a detailed description of this condition in 1933. Now let's discuss the disease in more detail.
Causes of Kartagener Syndrome
At present, it has been proven that Kartagener 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 designed to provide ciliary functions.
As a result, their mobility decreases or is completely lost - a condition arises that is called “primary ciliary dyskinesia”. More than twenty genes responsible for the development of Kartagener syndrome have been studied. Violation of any of them in the period of intrauterine development can lead to pathology.
How often is the disease?
As mentioned above, Kartagener syndrome in children is quite rare - only in one out of 16,000 newborns.
It should be noted that in children 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 Syndrome
External manifestations of Kartagener syndrome vary from a 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 happens by accident when a reverse location of the internal organs is detected during the examination for some other disease.
Bronchiectasis
Normally, the bronchial tree (the main frame 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 departments to the underlying ones, which resembles a crown turned upside down.
Bronchiectasis (or bronchiectasis) is a local expansion of the lumen of the bronchi by the type of bags, spindles or cylinders. In such deformed bronchi, the normal movement of the secret becomes impossible. He stagnates, which inevitably leads to infection and the development of an inflammatory reaction.
Clinically, bronchiectasis with Kartagener’s syndrome manifests as a cough with the discharge of greenish purulent sputum, fever up to 38 degrees and above, weakness, headache, nausea and vomiting can sometimes join. Powerful antibiotic therapy allows you to achieve external healing, 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 character of the flow. The chronic recurrent course of this condition is commonly called bronchiectasis.
Sinusitis
Another manifestation of Kartagener syndrome is sinusitis, or inflammation of the paranasal sinuses. Normally, the cilia of the epithelium of the nasal mucosa and sinuses due to their vibrations provide movement of the secret with dust particles and bacteria settled on it. With Kartagener syndrome, the function of the cilia is impaired, and the contents stagnate in the paranasal sinuses, causing inflammation.
Most often, sinusitis or inflammation of the maxillary sinuses develops, less often - frontal sinusitis (frontal sinus), ethmoiditis (ethmoid labyrinth cells) 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 region of the cheekbones.
Reverse location of internal organs
The reverse arrangement of internal organs, or situs viscerusim versus, is the most characteristic manifestation of Kartagener syndrome, which, however, occurs in less than half of patients. There is a movement of internal organs by the type of their mirror image. Allocate a complete and incomplete reverse arrangement of internal organs.
With an incomplete reverse arrangement, the lungs are interchanged. This may be accompanied by a mirror image of the heart with a shift of its apex into the right half of the chest cavity (dextrocardia).
With a complete reverse arrangement, there is a mirror movement of all internal organs. In this case, the liver is located on the left, the spleen is on the right. The accidental detection of this pathology during ultrasound during a routine examination and allows you to suspect Kartagener syndrome with its asymptomatic course.
The reverse location of the internal organs is due to impaired 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 XI-XII ribs.
The movement (or migration) of organs in the prenatal period is carried out due to the cilia, which do not function with the Kartagener syndrome, which determines the reverse location of the internal organs. Fortunately, no matter how threatening this condition looks, it in the vast majority of cases does not lead to significant disruptions of the body.
Other manifestations of Kartagener syndrome
Among other symptoms of the disease, male infertility is most important. It is due to the immobility of sperm due to the fact that their flagella do not function.
Relapsing otitis media and hearing loss may also bother patients. This is due to stagnation of secretion in the middle ear, which normally should be removed by cilia of 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, one should suspect Kartagener’s syndrome, the diagnosis of which is not very difficult. It includes a number of instrumental and laboratory research methods:
- A physical examination, or a routine medical examination, will reveal difficulty in nasal breathing, a specific auscultatory picture from the side of the lungs and heart, as well as a change in the terminal phalanges of the fingers, such as “drum sticks” during a long course of the process.
- An X-ray examination will reveal pathological lesions in the lungs and the reverse location of the heart (dextrocardia). This method is simple and quite safe, therefore, it makes it possible to diagnose Kartagener syndrome in the hospital.
- Bronchoscopy is the most accurate research 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.
Leading clinics and universities in the world have been discussing Kartagener syndrome for a long time, a photo of which is presented in this article. The experience of renowned specialists allows educating the younger generation of doctors to recognize such a rare disease.
Kartagener syndrome treatment
Is it possible to get rid of this condition? Currently, the treatment of Kartagener syndrome is symptomatic. There are no drugs that would restore the function of the cilia of epithelial cells, but modern medicine has a rich arsenal of drugs that facilitate the course of the disease. With their help, the patient can forget about his rare ailment for a long time.
The main methods of treatment:
- Antibiotics. These drugs are prescribed for pneumonia caused by bronchiectasis, and for sinusitis. Classical penicillin antibiotics, macrolides, as well as drugs 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 mucokinetic drugs, etc.
- Physiotherapy.
In the presence of severe bronchiectasis with often recurring bronchitis and pneumonia, surgical treatment is indicated - removal (resection) of the most affected area of the lung. After such an operation, the condition of the patients improves significantly.