Carthage syndrome

Congenital pathology - the syndrome of Kartagener - is named after the Swedish scientist Kartagener, who in 1935 conducted a thorough study of the totality of the three pathological signs:

• pansinusita;
• "Inverted" arrangement of organs;
• bronchoectatic disease.

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

[1], [2],

Epidemiology

The syndrome of Kartagener is considered to be a congenital pathology, or an inborn developmental defect. The proof is that the disease was found simultaneously in two identical twins, as well as with the next of kin.

Almost half of the patients with Kartagener's syndrome are found among patients with reverse organ localization.

The syndrome of Kartagener is found in about 1 case of 40 thousand newborns, while the early diagnosis is possible only in 16 thousand children.

[3], [4], [5], [6]

Causes of the syndrome of Kartagener

The syndrome of Kartagener is recognized as a hereditary disease, which is transmitted by an autosomal recessive variant. Possible risk factors are the presence in the family or among relatives of the patient with the syndrome of Kartagener.

It was proved that disturbances in the structure of the ciliated epithelium, which do not allow the cilia to move normally, provoke disorders of mucociliary movement. The purging function of the bronchi is disrupted, the pathological process develops within the bronchi and the lungs, the upper respiratory tract is affected.

Even if the patient has cilia that are capable of movement - their motor activity is impaired, is not synchronous, and can not provide a complete elimination of the fluid and self-cleaning.

[7], [8], [9], [10], [11]

Pathogenesis

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

In this regard, a favorable soil is created for the onset of a generalized chronic process in the bronchi and lungs, with bronchoectatic 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 the spermatozoon. Their absence in the syndrome of Kartagenera explains the infertility of male patients.

[12], [13], [14], [15], [16], [17]

Symptoms of the syndrome of Kartagener

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

Constant exacerbations of bronchitis, sinusitis and pneumonia lead to destructive changes in muscle tissue and nerve fibers. In certain places, there is an expansion of the bronchiectasis - bronchiectasis.

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

• insufficient physical development of the child;
• frequent headache, periodic sweating;
• increased body temperature during relapses;
• a persistent cough with a purulent discharge;
• shortness of breath through the nose;
• purulent nasal discharge;
• inability to smell;
• polyps in the nasal cavity;
• chronic inflammation of the middle ear;
• violation of blood circulation in the limbs;
• blanching of the skin during exercise.

A characteristic feature of the syndrome of Kartagener is the recurrent position of the lungs. Approximately half of all cases of the disease also show a reversible location of the heart (on the right side) and other internal organs.

Men suffering from the syndrome of Kartagener, as a rule, are infertile.

Additional symptoms may include:

• changes in the retina of the eye;
• defects of the urinary system;
• insufficient thyroid function;
• polydactyly, etc.

The syndrome of Cartagena in infants can not detect itself, but only after a few months or even years.

Stages

• stage of exacerbation of the syndrome (characterized by relapse of chronic lung disease and upper respiratory tract);
• stage of alleviation of the condition (it is a remission of diseases of the respiratory system, with a temporary relaxation of symptoms).

[18], [19], [20], [21]

Forms

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

[22], [23], [24], [25], [26]

Complications and consequences

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

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

Chronic inflammatory process in the bronchi can cause abscess of the lung, bronchial asthma and chronic inflammation of the lungs.

[27], [28], [29]

Diagnostics of the syndrome of Kartagener

Diagnosis of the syndrome of Kartagener is based, first of all, on the study of the lesion of the respiratory system. Various instrumental and laboratory methods are used for this.

• A routine examination of the doctor can detect problems with nasal breathing. Auscultation (listening) makes it possible to establish changes in the lungs and heart.
• Analyzes in the laboratory include conducting a general blood test, a biochemical blood test, an immunogram. The results usually show signs of inflammation, hypogammaglobulinemia A, decreased leukocyte mobility.
• Instrumental diagnostics includes:
  • X-ray examination that helps to detect painful foci in the respiratory system, as well as non-standard transposition of the heart;
  • bronchoscopy, which qualitatively visualizes bronchiectasias, and also allows the extraction of a biopsy of bronchial mucosa;
  • a biopsy of the mucous membranes, which will indicate the stage of inflammation and allow evaluation of structural disturbances of the ciliated epithelium.

In addition, a consultation with an otorhinolaryngologist and a pulmonologist may be needed - doctors who will confirm the presence of a chronic process in the airways.

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

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

[30], [31]

Differential diagnosis

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

[32], [33], [34], [35]

Treatment of the syndrome of Kartagener

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

• anti-inflammatory treatment with non-steroidal anti-inflammatory drugs;
• providing drainage capacity of the bronchi (manual therapy, massage, inhalation mucolytics, drainage exercises and postural drainage);
• antimicrobial treatment with a long course during the relapse, with the use of significant doses of antibiotics, both injectively and intrabronchially; can be used antibiotics of a number of penicillins, macrolides, as well as preparations of the fluoroquinolone series;
• anti-relapse treatment (immunostimulants, bronchomunal, vitamin therapy);
• physiotherapy, exercise therapy.

In severe cases, an operation called palliative resection may be prescribed and involves the removal of a part of the lung. After the operation, it is often possible to achieve significant progress in treatment.

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

If there are significant bilateral extensions in the bronchi, surgical intervention is not considered necessary.

Before the operation it is important to perform a full sanation of the nasal sinuses.

Prevention

Since Cartagena's syndrome is considered a hereditary congenital disease that develops due to gene mutations, it is not possible to prevent its occurrence.

For the prevention of relapse in patients with the syndrome of Kartagener, the following measures are taken:

• strengthening immunity;
• prevention of respiratory infections;
• hardening, physical activity;
• course reception of Timogen, Bronhomunal, vitamin preparations;
• in some cases - the introduction of antibodies IG and plasma.

[36], [37], [38], [39]

Forecast

The prognosis of the Kartagener syndrome depends on the degree of manifestation of the broncho-pulmonary pathology. With minor enlargements of the bronchial sites, and also in the absence of signs of respiratory insufficiency, the prognosis can be considered favorable.

If the process is generalized, the signs of respiratory insufficiency increase, the purulent process develops and intoxication - in this case the patient may become disabled. In severe cases, patients can die without reaching sexual maturity.

All patients diagnosed with Kartagener's syndrome should be registered and periodically undergo preventive treatment.

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