Kartagener syndrome is a congenital disease in which the organs are arranged in the opposite direction. In addition, those affected suffer from bronchiectasis and chronic inflammation of the paranasal sinuses.
What is Kartagener Syndrome?
Due to the malfunctioning of the cilia, the affected persons repeatedly suffer from respiratory infections. A conspicuous cough and a constantly runny nose are already evident in infancy . See AbbreviationFinder for abbreviations related to Kartagener Syndrome.
Kartagener syndrome is an extremely rare hereditary disease. In Germany about 4000 people are affected by it. Approximately 900 patients are children or adolescents. The syndrome is closely related to primary ciliary dyscenesis (PCD), which is a genetic disorder of the motile cilia (cilia).
These are located in the mucous membranes of the bronchi and nose. The cilia have the function of protecting the human lungs from infection. To do this, they transport bacteria that get into the body when you breathe them out. In the case of primary ciliary dyscenesis, however, there is a malfunction of the cilia.
Because the germs cannot be removed from the organism as a result, diseases and complaints such as hearing problems, repeated middle ear infections, chronic colds and even pneumonia occur several times.
Around 50 percent of all patients have a mirror-inverted arrangement of the internal organs (situs inversus). Doctors then speak of Kartagener syndrome. In this case, the heart of the affected person is not on the left but on the right side of the body. Because ciliary dysfunction also affects sperm motility, male patients are often at risk of infertility.
The Swiss internist Manes Kartagener (1897-1975) served as the namesake of the Kartagener syndrome. The doctor dealt with the research of bronchiectasis.
Causes
Both Kartagener syndrome and primary ciliary dyskenesis are congenital. Their inheritance is autosomal recessive. The child only becomes ill if an altered gene is inherited from both the father and the mother. It is therefore quite possible that the hereditary disease does not show up in every generation.
DNAH5 and DNAH11, which encode subunits of the dynein complex, were identified as responsible genes. Dynein is a motor protein. Because a dynein subunit is missing, which ensures the mobility of the microtubules, the cilia of the lungs, bronchi and nasal mucosa are damaged.
As a result, the transport of mucus fails, preventing the cleansing of these organs, which in turn causes chronic inflammation. The malfunction of the motile cilia is also responsible for the proper arrangement of the organs during embryonic development. As a rule, however, the mirror image of the organs does not result in an additional pathological value. So far, only 50 to 60 percent of the various genes that are the cause of primary ciliary dyscenesis have been decoded.
Symptoms, Ailments & Signs
Due to the malfunctioning of the cilia, the affected persons repeatedly suffer from respiratory infections. A conspicuous cough and a constantly runny nose are already evident in infancy . Also typical are frequent middle ear infections in small children, which are difficult to control medically.
At the same time, the affected children often develop bronchotis or pneumonia. Because cleaning through the ciliated epithelium is not possible, the only cleaning option left is coughing up. For this reason, the sick children constantly suffer from coughing.
In children and adolescents, chronic inflammation of the paranasal sinuses (sinusitis) also occurs as the disease progresses. It is not uncommon for benign growths (polyps) to form on the mucous membrane of the nose. There is also a risk that the recurring respiratory infections will result in a mucus-filled sac in the bronchial system (bronchiectasis).
In male patients, about 60 percent of all those affected have a reproductive inability. This is due to immobile or dysmotile sperm tails. Some female patients may also have fertility problems. The reason for this is a disruption in the fallopian tube transport function. The fallopian tubes are lined with cilia.
Diagnosis & course of disease
A Kartagener syndrome can usually already be diagnosed by the mirror-inverted organs. In addition, there is a typical symptom profile with respiratory infections. In contrast, it is more difficult to identify primary ciliary dyscenesis without the wrong organ arrangement.
Extensive investigation procedures have to be carried out. These include a cilia beat analysis, taking a tissue sample (biopsy), which is examined under an electron microscope, and antibody detection of the DNAH5 gene. The course of Kartagener syndrome or PCD is different.
Some patients show mild symptoms, while others experience chronic lung failure in middle adulthood. In such cases, a lung transplant is required. Severe gastroesophageal reflux may be present in children.
Complications
Kartagener syndrome can cause various symptoms and complications. As a rule, the further course depends on the severity of the syndrome and the exact arrangement of the organs. Most of those affected suffer from severe and frequent infections of the respiratory tract. In the worst case, these can be fatal if left untreated.
A strong cough also occurs, mucus constantly escapes from the nose. Not infrequently, patients also suffer from inflammation in the ears, which can further lead to hearing loss. Furthermore, Kartagener syndrome leads to restrictions on the genitals, so that most patients suffer from infertility.
This condition can trigger depression and other mental upsets in many people. In general, the quality of life is relatively severely reduced by Kartagener syndrome. If the lungs are damaged by various inflammations or infections, a transplant may be necessary.
Life expectancy can also be reduced by Kartagener syndrome. Hearing aids can compensate for hearing loss. Other complaints can also be limited with the help of medication or therapy, although there are no particular complications.
When should you go to the doctor?
Children suffering from Kartagener syndrome always require close medical supervision. The disease is usually diagnosed immediately after birth and treated directly in the hospital. After the initial treatment, the parents must consult other doctors and therapists. In the case of organ damage, an internist must be called in, while the malpositions themselves must be treated surgically. Since the disease usually also affects the mental state of those affected, medical treatment should be accompanied by therapy.
Parents should contact the responsible doctor or a clinic for hereditary diseases. Medical treatment usually lasts for several years or even decades. Physiotherapeutic treatment must also take place during this period, during which the patient relearns essential bodily functions. Since this is a lengthy process that is exhausting for everyone involved, psychological support is also recommended for the relatives. Treatment should begin as soon as possible after the diagnosis of Kartagener syndrome.
Treatment & Therapy
Since Kartagener syndrome and primary ciliary dyskenesis are congenital, the underlying cause cannot be treated. Therefore, therapy consists of slowing the progression of the disease and controlling the symptoms. This requires regular examinations of the sputum, imaging examination methods such as computed tomography (CT) or bronchoscopy, and functional tests of the lungs.
Hearing tests are also carried out to determine any hearing impairment. Since other organs can also be affected by the disease, treatment by various specialists is necessary.
To treat the respiratory symptoms, inhalations of beta-2 sympathomimetics such as salbutamol, mucolytic drugs such as N-acetylcysteine and regular physiotherapeutic measures take place. In addition, the patient should drink plenty of fluids. To prevent secondary damage to the respiratory tract, taking antibiotics can be useful. This counteracts bronchiectasis and pneumonia.
Outlook & Forecast
Unfortunately, it is not possible to treat Kartagener syndrome through self-help measures. Only relief of the symptoms can be achieved, whereby medical treatment is mandatory at all times. By observing regular check-ups, possible complications can be detected early and treated quickly and adequately. A warning is given against self-medication with over-the-counter medications without prior consultation with a doctor in relation to possible interactions.
The hearing loss that is often present absolutely requires treatment with a hearing aid in order to prevent further deterioration of the sense of hearing. Those affected are therefore recommended to wear this whenever possible. If there is also conductive hearing loss, this can usually be treated surgically or additionally with a partially implanted hearing aid, whereas a cochlear implant can be used in the case of sensorineural hearing loss. These measures enable the child to have adequate hearing and usually ensure normal speech development.
Regular functional tests of the lungs allow problems to be identified at an early stage, with respiratory problems often being alleviated by physiotherapeutic applications. Patients can continue to do some of these themselves at home and thus intensify their effectiveness.
If psychological problems occur, contact with other affected people in the form of a self-help group is usually sufficient. Otherwise, of course, there is also the possibility of psychotherapy.
Prevention
There are no preventive measures against Kartagener syndrome because it is an inherited disease.
Aftercare
In most cases, the measures or aftercare options for Kartagener syndrome are severely limited or not available to the person affected. First and foremost, a quick and, above all, early diagnosis of the disease is necessary so that no further complications arise and the symptoms do not continue to worsen. The sooner a doctor is consulted, the better the further course.
Since Kartagener syndrome is a genetic disease, those affected should definitely undergo a genetic examination and counseling if they wish to have children, so that the syndrome cannot recur in their descendants. The treatment itself depends on the severity of the symptoms, whereby in most cases it is necessary to take various medications.
Those affected should ensure that they are taken regularly and that the dosage is correct in order to permanently relieve the symptoms. If antibiotics are taken, alcohol should not be consumed. Regular examinations and checks of the internal organs in Kartagener syndrome are also very important so that other damage can be recognized and treated early.
You can do that yourself
It is not possible to treat Kartagener syndrome through self-help means. It is only possible to alleviate the symptoms through self-help measures, whereby medical treatment is essential.
As a rule, regular examinations have a positive effect on the course of the disease in Kartagener syndrome, since this allows various complications to be recognized and treated at an early stage. Regular function tests of the lungs are also necessary to avoid possible breathing difficulties. Since those affected often also suffer from hearing loss, the use of a hearing aid is absolutely necessary. This can prevent further deterioration of the sense of hearing. The patient should therefore always wear a hearing aid to avoid further damage to the ears. The symptoms of the respiratory tract are often treated with physiotherapy measures. It is possible for the person concerned to do the exercises andTo carry out breathing techniques from this therapy in your own home and to limit the symptoms.
When taking antibiotics, attention should be paid to possible interactions with other medications. Likewise, the intake of alcohol should be avoided. In the case of psychological problems, talking to parents or friends can be helpful. Contact with other patients can also have a positive effect on the patient’s condition.
