Kartagener's syndrome

The congenital pathology – Kartagener syndrome – is named after the Swedish scientist Kartagener, who in 1935 conducted a thorough study of a combination of three pathological signs:

• pansinusitis;
• "inverted" arrangement of organs;
• bronchiectatic disease.

At the same time, the first to describe the disease was the Kiev doctor Sievert back in 1902, so you can often come across another name for the disease – Sievert-Kartagener syndrome.

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Epidemiology

Kartagener syndrome is considered a congenital pathology, or a congenital developmental defect. Evidence of this is that the disease was detected simultaneously in two identical twins, as well as in close relatives.

Almost half of those affected by Kartagener syndrome are found among patients with reverse organ localization.

Kartagener syndrome occurs in approximately 1 in 40,000 newborns, with early diagnosis possible in only 16,000 children.

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Causes Cartagener's syndrome

Kartagener syndrome is recognized as a hereditary disease that is transmitted in an autosomal recessive manner. Probable risk factors include the presence of a patient with Kartagener syndrome in the family or among relatives.

It has been proven that disturbances in the structure of the ciliated epithelium, which do not allow the cilia to move normally, provoke disorders of mucociliary movement. The cleansing function of the bronchi is disrupted, a pathological process develops inside the bronchi and lungs, and the upper respiratory tract is affected.

Even if the patient has cilia that are capable of movement, their motor activity is impaired, asynchronous, and cannot ensure complete removal of fluid and self-cleaning.

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Pathogenesis

Pathogenetic features of the disease - Kartagener syndrome - consist of a defect in the structure and functional capacity of the ciliated epithelium. Cilia lose the ability to oscillate synchronously, which leads to a disorder of the mucociliary system of the bronchi.

In this regard, favorable conditions are created for the onset of a generalized chronic process in the bronchi and lungs, with bronchiectatic manifestations.

Cellular structures with ciliated epithelial tissue are located not only in the bronchi, but also in other organs - this explains the development of inflammation in the nasal cavity and paranasal sinuses.

Elements similar in structure to cilia are flagella in spermatozoa. Their absence in Kartagener syndrome explains the infertility of male patients.

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Symptoms Cartagener's syndrome

The first signs of Kartagener syndrome appear in early childhood: frequent respiratory diseases of both the upper respiratory tract and the lungs are noted.

Constant exacerbations of bronchitis, sinusitis and pneumonia lead to destructive changes in muscle tissue and nerve fibers. In certain places, sections of the bronchi expand – bronchiectasis.

In addition, Kartagener syndrome may be accompanied by other symptoms, which, however, are not considered characteristic signs:

• insufficient physical development of the child;
• frequent headaches, periodic increased sweating;
• elevated body temperature during relapses;
• persistent cough with purulent discharge;
• difficulty breathing through the nose;
• purulent nasal discharge;
• inability to smell;
• polyps in the nasal cavity;
• chronic inflammation of the middle ear;
• circulatory disorders in the extremities;
• paleness of the skin during exertion.

A characteristic feature of Kartagener syndrome is the inverted position of the lungs. In about half of all cases of the disease, the inverted position of the heart (on the right side) and other internal organs is also found.

Men with Kartagener syndrome are usually infertile.

Additional symptoms may include:

• changes in the retina;
• urinary system defects;
• underactive thyroid gland;
• polydactyly, etc.

Kartagener syndrome in infants may not reveal itself, but may only appear after several months or even years.

Stages

• exacerbation stage of the syndrome (characterized by a relapse of chronic disease of the lungs and upper respiratory tract);
• stage of relief of the condition (represents remission of respiratory diseases, with a temporary weakening of symptoms).

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Forms

• inverted lungs;
• reverse arrangement of the lungs and heart (anomaly of transposition of the apex of the heart);
• reverse arrangement of the lungs, heart and internal organs (liver on the left, spleen on the right).

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Complications and consequences

Problems with the respiratory system and lack of proper breathing through the nose can lead to chronic oxygen deficiency, which negatively affects all the patient's organs - in particular, mental abilities. Concentration may be impaired, memory may deteriorate.

Constant nasal congestion can become a source of problems with the nervous system: such patients often experience a bad mood, nervousness, and irritability.

Chronic inflammation in the bronchi can cause lung abscess, bronchial asthma and chronic pneumonia.

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Diagnostics Cartagener's syndrome

Diagnosis of Kartagener syndrome is based primarily on the study of the respiratory system damage. For this, various instrumental and laboratory methods are used.

• A routine doctor's examination can detect problems with nasal breathing. Auscultation (listening) can detect changes in the lungs and heart.
• Laboratory tests include a complete blood count, a biochemical blood test, and an immunogram. The results usually reveal signs of an inflammatory process, hypogammaglobulinemia A, and decreased leukocyte mobility.
• Instrumental diagnostics includes:
  • an X-ray examination that helps to detect painful areas in the respiratory system, as well as non-standard transposition of the heart;
  • bronchoscopy, which qualitatively visualizes bronchiectasis and also allows for the removal of a biopsy of the bronchial mucosa;
  • a biopsy of the mucous membranes, which will indicate the stage of inflammation and allow us to assess the structural abnormalities of the ciliated epithelium.

Additionally, you may need to consult an otolaryngologist and pulmonologist - doctors who will confirm the presence of a chronic process in the respiratory tract.

An X-ray of Kartagener syndrome may have the following diagnostic features:

• dark areas in the paranasal sinuses;
• changes in the bronchial tree;
• areas with bronchiectasis;
• presence of purulent inflammation.

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Differential diagnosis

As a rule, diagnosis of Kartagener syndrome is not difficult. Differential diagnostics in some cases can be carried out with pneumonia, disseminated or fibrous-cavernous tuberculosis, collagenoses.

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Treatment Cartagener's syndrome

In most cases, symptomatic treatment of Kartagener syndrome is carried out using the following measures:

• anti-inflammatory treatment using non-steroidal anti-inflammatory drugs;
• ensuring the drainage capacity of the bronchi (manual therapy, massage, inhalation administration of mucolytics, drainage exercises and postural drainage);
• antimicrobial treatment with a long course during the period of relapse, using significant doses of antibiotics, both by injection and intrabronchial; antibiotics of the penicillin series, macrolides, and fluoroquinolone drugs can be used;
• anti-relapse treatment (immunostimulants, bronchomunal, vitamin therapy);
• physiotherapy, exercise therapy.

In severe cases, an operation called palliative resection may be prescribed, which involves removing part of the lung. After surgery, significant progress in treatment can often be achieved.

If the bronchi are affected symmetrically on both sides, then bilateral resection is performed in two approaches, with a time interval of 8 to 12 months.

In the presence of significant bilateral expansions in the bronchi, surgical intervention is not considered necessary.

Before surgery, it is important to perform a complete sanitation of the nasal sinuses.

Prevention

Since Kartagener syndrome is considered a hereditary congenital disease that develops as a result of gene mutations, it is not possible to prevent its occurrence.

To prevent relapses in patients with Kartagener syndrome, the following measures are taken:

• strengthening the immune system;
• prevention of respiratory infections;
• hardening, physical activity;
• a course of treatment with Timogen, Bronchomunal, and vitamin preparations;
• in some cases – the introduction of Ig antibodies and plasma.

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Forecast

The prognosis of Kartagener syndrome depends on the degree of bronchopulmonary pathology. With minor expansion of bronchial sections, as well as in the absence of signs of respiratory failure, the prognosis can be considered favorable.

If the process is generalized, signs of respiratory failure increase, a purulent process and intoxication develop - in this case, the patient may become disabled. In severe cases, patients may die before reaching puberty.

All patients diagnosed with Kartagener syndrome must be registered with a dispensary and undergo periodic preventive treatment.

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