Kartagener syndrome


Kartagener syndrome

Description Kartagenerova syndrome

Kartagener’s syndrome (a collection of symptoms characteristic of a particular disease) is a rare inherited disease that is characterized by the presence of a range of symptoms (symptoms) as common infections of the upper and lower respiratory tract and permanent extension, reverse arrangement of the internal organs, and male infertility.

These symptoms are the result of a defect that takes place in some of our body’s cells, and specifically in those who have on their surface a special “device”, called cilia or flagella. In essence it is a movable “hair” on the cell surface, whose task is to allow the cell movement (as in the case of sperm), or, conversely, to move the mass, which is in the vicinity of these cells occurs (here again, it is the cells that line airways).

Cells which have on their surface cilia are found mainly in the airways – upper means. nasal cavity, paranasal sinuses, nasopharynx – and lower – larynx, trachea, bronchi.

The task of cilia in this case is to eliminate wave-like movement of mucus, which consists in the airways. The mucus serves as a protective layer, into which the catch all possible impurities e.g. dust and microbes, as here from the external environment receive. Cilia activity was shifted towards the mucus in the oral cavity where it is subsequently swallowed and reaches the stomach.

In people with Kartagenerovým syndrome who have the function of cilia insufficient, resulting in an accumulation of mucus in the airways, which leads to a permanent extension of the bronchi (the so-called. Bronchiectasis) and the development of infection – often repetitive and protracted (chronic) inflammation of upper and lower respiratory tract – and especially sinusitis (sinusitis) and lung inflammation.

Cilia are also found on cells of the middle ear mucosa and the Eustachian tube (which connects the tympanic cavity nasopharynx) and therefore there may be a fault release mucus leading to frequent inflammations of the middle ear (otitis media) and in time to the loss of hearing.

The only cilia – whip – is also located on each of the male sex cells – sperm. With it moves and sperm can not reach the female reproductive cell – an egg, which is the very essence of fertilization.

If the function of the flagellum insufficient sperm is capable of normal movement. This is the essence of infertility in men with Kartagenerovým syndrome.

In women, the cells covered with cilia in genital paths also located, in the fallopian tubes (passing travels egg after release from the ovary towards the uterus), but the female fertility is thereby impaired much less than men, indicating that for moving the eggs are cilia in the fallopian tubes so important.

Another hallmark Kartagenerova syndrome is called. Situs inversus viscerum – or – reverse the imposition of thoracic and abdominal organs. The heart is placed to the right (dextrocardia), left liver, spleen, right, etc. One of the possible theories of the origin of this situation is that during intrauterine life due to impaired function of cilia is not stored properly visceral organs.

Risk factors Kartagener syndrome

Kartagener syndrome is called congenital. Autosomal recessive disease. Autosomal means that you can inherit from both the mother and the father – does not matter here on sex and recessive, then that victim must inherit the gene from both parents at once, otherwise the image will not develop the disease.

The following lines describe situations that may occur when the meet two potential parents, whether or not they have Kartagener syndrome, and what is the risk that their child will inherit this syndrome.

The frequency of this disease in the population is 1:30 000, is therefore affected one child born on 30,000 healthy children.

If the parents of a healthy child with Kartagenerovým syndrome, then they have a 25% chance that their next joint child will have the same disease.
If a child inherits the affected gene from only one parent, the disease usually do not develop, but the baby is called. Heterozygous – carrier of the disease. If there is a situation that meets with another carrier of the disease, their offspring have a 25% chance of inheriting both genes and ill.

If one of the partners has Kartegenerův syndrome and the other is healthy, the probability of occurrence of the disease in their child is small. In the situation that the frequency of the disease in the population is 1:30 000 healthy individual has a chance that the carrier is a defective gene 1: 100. At their joint child is then likely to inherit two defective genes from their parents about 1: 200 (0.5%). However, the carrier will be a 100% probability (but will not be sick !!!!)

Prevention Kartagener syndrome

Because it is a congenital disease prevention lies in genetic counseling services for families where this syndrome vyskytnul. Direct DNA diagnosis is currently not possible, use a genealogical (pedigree creation) mapping the incidence of disease and illness calculating probabilities for possible descendants.

Another possible method for the detection of the disease is an ultrasound examination of the fetus and in the event that it is a parent, which has one child with Kartagenerovým syndrome born.Every other has had a 25% chance of inheriting the disease. During examination looking for signs of reverse imposition of abdominal and thoracic organs (situs inversus viscerum), which is one of the signs of the syndrome.

Symptoms of the syndrome Kartagener

In fact, all signs of the disease were mentioned and explained in the description of the syndrome. It is therefore a disease that is inherited and therefore manifests in childhood. Infants may suffer from breathing disorders called respiratory distress syndrome.

In childhood, there are recurring middle ear infections, chronic cough with expectoration of phlegm, fever and inflammation of the sinuses. Conversely imposed by the authorities does not usually have any problems only if the occurred cardiac defect.

Chronic diseases of the upper and lower airways occurs in adults, it is a permanent extension bronchitis (bronchiectasis) and sinusitis (sinusitis).

Men with Kartagenerovým syndrome virtually all are naturally infertile.

Kartagener Syndrome Treatment

There is currently no treatment that would allow removal of the root causes of disease and, therefore, the only way is to modify syndrome symptoms.
When repeated inflammation as respiratory and middle ear serves appropriate antibiotics.

To prevent the development of a permanent extension of the bronchi (bronchiectasis) should immediately proceed after the diagnosis to rehabilitation. With it ill learn mastering a few simple techniques and with the use of substances that are conducive to cough up mucus (expectorant) and its “dilution” (mucolytics), how to loosen mucus from the airways.

If already bronchioles spread, or as reactive changes developed chronic inflammation of nasal polyps (oversized mucosa), you need to be surgically removed, so that the disease does not grow further.

Male infertility treatment involves the use of assisted reproduction methods, namely methods for intracytoplasmic sperm injection into the oocyte (ICSI).

How to help treat the syndrome Kartagener

Patients diagnosed with Kartagener syndrome have no possibility of a complete cure, but adherence to the prescribed treatment and rehabilitation exercises may progress of their disease significantly influence and lead a quality life. Compliance with these principles is proof of responsible and deliberate approach to his illness, for which the reward is in good health, without major complications of the disease.

Complications Kartagener syndrome

In the event that the patient ignores medical advice and trivializes the illness, they may have to develop permanent consequences which the further course of the disease only worsen, and the patient may become seriously ill for other fairly banal diseases.

After recurrent otitis may develop deafness.

Chronic irritation of mucous membrane inflammation occurs at its overgrowth and formation of so-called. Polyps, which must then be surgically removed.

Permanent dilation of the airways – bronchiectasis – may be a cause of recurrent pneumonia. If this occurs, treatment consists of surgical removal.

Often develops called. Obstructive and restrictive ventilatory disorder of the lungs, which is a limitation of the expansion of the lungs and the area where there is the necessary exchange of oxygen. As a sign of its reduction to describe the so-called. Clubbing – expanded last phalanges.

Other names: immobile cilia syndrome, immobile cilia syndrome, syndrome Siewert

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