As Kartagener's syndrome is a congenital disease in which the organs are arranged the wrong way round. In addition, those affected suffer from bronchiectasis and chronic inflammation of the sinuses.
What is Kartagener's Syndrome?
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The Kartagener's syndrome is an extremely rare hereditary disease. It affects around 4,000 people in Germany. Around 900 patients are children or adolescents. The syndrome is closely linked to primary ciliary dyskenesia (PCD), which is a genetic disorder of the mobile cilia (cilia).
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These are located in the mucous membranes of the bronchi and nose. The function of the cilia is to protect the human lungs from infection. To do this, they remove bacteria that enter the body when it is inhaled. In the case of primary ciliary dyskenesia, however, there is a malfunction of the cilia.
Because the germs cannot be removed from the organism because of this, illnesses and complaints such as hearing problems, repeated otitis media, chronic rhinitis and even pneumonia several times occur.
Around 50 percent of all patients have a mirror-inverted arrangement of the internal organs (situs inversus). Doctors then speak of a Kartagener syndrome. In this case, the heart of the person concerned is not on the left, but on the right side of the body. Since the ciliary dysfunction also impairs semen mobility, male patients are often at risk of infertility.
The Swiss internist Manes Kartagener (1897-1975) served as the namesake of the Kartagener syndrome. The physician dealt with the research of bronchiectasis.
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Both Kartagener's syndrome and primary ciliary dyskenesia are congenital. They are inherited in an autosomal recessive manner. The child only becomes ill if a modified gene is inherited from both the father and the mother. So it is 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, which ensures the mobility of the microtubules, is missing, the cilia of the lungs, bronchi and nasal mucosa are damaged.
The transport of the mucus therefore fails, which means that these organs are not cleaned, 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-inverted nature of the organs does not result in an additional disease value. Of the various genes that are the cause of primary ciliary dyskenesia, only 50 to 60 percent have so far been deciphered.
Symptoms, ailments & signs
Due to the malfunction of the cilia, the affected people suffer from repeated respiratory infections. Noticeable coughs and a constantly runny nose appear as early as infancy. Frequent middle ear infections in small children, which are difficult to control medically, are also typical.
$config[ads_text3] not foundAt the same time, the affected children often suffer from bronchodilias or pneumonia. Because cleaning through the ciliated epithelium is not possible, the only cleaning option is coughing up. For this reason, the sick children constantly suffer from coughs.
In children and adolescents, chronic sinusitis (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 the risk that the recurring respiratory tract infections will result in a mucus-filled sac in the bronchial system (bronchiectasis).
In male patients, about 60 percent of all those affected are unable to reproduce. This is due to immobile or dysmotile sperm tails. Some female patients can also have fertility problems. The reason for this is a disruption of the fallopian tube transport function. So the fallopian tubes are lined with cilia.
Diagnosis & course of disease
A Kartagener syndrome can usually be diagnosed by the mirror-inverted organs. In addition, there are typical symptoms of respiratory infections. Primary ciliary dyskenesia without recognizing the wrong organ arrangement, on the other hand, is more difficult.
Complex investigation procedures have to be carried out. These include a ciliary beat analysis, the removal of a tissue sample (biopsy), which is examined under an electron microscope, and an antibody detection of the DNAH5 gene. The course of a Kartagener syndrome or a PCD is different.
Some patients show mild symptoms, while others suffer from chronic lung failure in middle adulthood. In such cases, a lung transplant is required. Severe gastroesophageal reflux may be present in children.
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Complications
Kartagener's syndrome can lead to various complaints 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 respiratory infections. In the worst case, these can be fatal without treatment.
There is also a strong cough, and mucus is constantly coming out of the nose. It is not uncommon for patients to also suffer from inflammation in the ears, which can continue to lead to hearing loss. Furthermore, the Kartagener syndrome leads to restrictions on the genitals, so that most patients suffer from an inability to reproduce.
This complaint can cause depression and other mental disorders in many people. The quality of life is generally reduced to a relatively large extent by Kartagener's syndrome. If the lungs are damaged by various inflammations or infections, a transplant may be necessary.
Life expectancy can also be reduced due to Kartagener's syndrome. Hearing aids can compensate for a hearing loss. Other complaints can also be limited with the help of medication or therapies, whereby there are no particular complications.
When should you go to the doctor?
Children who suffer from Kartagener's syndrome require close medical supervision in any case. The disease is usually diagnosed immediately after birth and treated directly in hospital. After the initial treatment, the parents must consult other doctors and therapists. In the event of organ damage, an internist should be called in, while the malpositions themselves must be treated surgically. Since the disease usually also has an impact on the emotional 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. During this period, physiotherapeutic treatment must also take place, during which the patient relearns essential body functions. Since this is a lengthy and exhausting process for everyone involved, psychological support is also recommended for the relatives. Treatment should begin as soon as possible after the diagnosis of Kartagener's syndrome.
Treatment & Therapy
Since Kartagener's syndrome and primary ciliary dyskenesia are congenital, the underlying cause cannot be treated. Therefore, therapy is to slow the disease's progression and combat symptoms. This requires regular examinations of the sputum, imaging methods such as computed tomography (CT) or bronchoscopy, and function tests of the lungs.
Hearing tests are also carried out to determine if there is any hearing loss. Since other organs can also be affected by the disease, treatment by various specialists is necessary.
To treat the symptoms of the respiratory tract, inhalations of beta-2 sympathomimetics such as salbutamol, the intake of mucolytics such as N-acetylcysteine and regular physiotherapeutic measures take place. In addition, the patient should drink plenty of fluids. In order to prevent secondary damage to the airways, it can be useful to take antibiotics. In this way, bronchiectasis and pneumonia are counteracted.
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➔ Medication for shortness of breath and lung problemsOutlook & forecast
Unfortunately, with Kartagener's syndrome, it is not possible to treat it through self-help measures. All that can be achieved is alleviation of the symptoms, and medical treatment is essential at all times. By adhering to regular check-ups, possible complications can be identified early and adequately treated quickly. You are warned about possible interactions before self-medication with over-the-counter drugs without prior consultation with your doctor.
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. It is therefore recommended that those affected wear this whenever possible. If conductive hearing loss is also present, this can usually be treated surgically or additionally with a partially implanted hearing aid, whereas in the case of sensorineural hearing loss a cochlear implant. These measures enable the child to have sufficient hearing and usually ensure normal language development.
Regular functional tests of the lungs allow problems to be identified at an early stage, and symptoms of the respiratory tract can often be alleviated through physiotherapeutic applications. Patients can, in part, continue this on their own at home and thus intensify their effectiveness.
If psychological complaints arise, contact with other affected persons 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 the Kartagener syndrome, as it is an inherited disease.
Aftercare
In most cases, the measures or the options for aftercare for Kartagener syndrome are severely limited or are not available to the person concerned. First and foremost, a quick and, above all, an early diagnosis of the disease is necessary so that no further complications occur and the symptoms do not worsen. The earlier a doctor is consulted, the better the further course is usually.
Since the Kartagener syndrome is a genetically determined disease, the person concerned should definitely carry out a genetic examination and counseling if they want to have children so that the syndrome cannot recur in their descendants. The treatment itself depends on the severity of the symptoms, although in most cases it is necessary to take various medications.
Those affected should ensure that they are taken regularly and that the dose is correct in order to permanently alleviate the symptoms. If antibiotics are taken, alcohol should not be consumed. Regular examinations and controls of the internal organs in Kartagener's syndrome are also very important so that other damage can be recognized and treated at an early stage.
You can do that yourself
It is not possible to treat Kartagener's syndrome through self-help. 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 the case of Kartagener's syndrome, as various complications can be recognized and treated at an early stage. Regular function tests of the lungs are also necessary in order to avoid possible breathing difficulties. Since those affected often also suffer from hearing loss, the use of a hearing aid is essential here. This can prevent a further deterioration in hearing. The patient should therefore always wear a hearing aid to prevent further damage to the ears. The symptoms of the respiratory tract are often treated by means of physiotherapy. Here it is possible for the person concerned to carry out the exercises and breathing techniques from this therapy in their own home and to limit the symptoms.
When taking antibiotics, attention should be paid to possible interactions with other drugs. You should also refrain from consuming alcohol. In the case of psychological complaints, discussions with parents or friends can be helpful. Contact with other patients can also have a positive effect on the patient's condition.
