Kartagener syndrome is the name given to a congenital disorder in which the organs are arranged laterally inverted. In addition, affected individuals suffer from bronchiectasis as well as chronic inflammation of the sinuses.
What is 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 dyskenesia (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. For this purpose, they transport bacteria that enter the body during inhalation back out of it. 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 middle ear infections, chronic rhinitis and even repeated pneumonia occur. In about 50 percent of all patients, there is a mirror-inverted arrangement of the internal organs (situs inversus). Doctors then speak of a Kartagener syndrome. In this case, the heart of the affected person is not located on the left side of the body, but on the right. Since the ciliary dysfunction also impairs sperm motility, male patients are often at risk of infertility. The Swiss internist Manes Kartagener (1897-1975) served as the eponym for Kartagener’s syndrome. The physician was involved in the study of bronchiectasis.
Causes
Both Kartagener syndrome and primary ciliary dyskenesia are congenital. Their inheritance is autosomal recessive. Disease in the child occurs only when an altered gene is inherited from both the father and the mother. It is therefore quite possible that the hereditary disease does not manifest itself in every generation. DNAH5 and DNAH11, which encode subunits of the dynein complex, have been identified as the responsible genes. Dynein is a motor protein. Because a dynein subunit is missing, which is responsible for the mobility of the microtubules, the cilia of the lungs, bronchi and nasal mucosa are damaged. The transport of mucus fails because of this, resulting in a lack of cleansing of these organs, which in turn causes chronic inflammation. The malfunction of motile cilia is also responsible for the proper arrangement of organs during embryonic development. However, additional disease value does not usually result from the mirror-image arrangement of the organs. Of the various genes that are causative for primary ciliary dyskenesia, only 50 to 60 percent have been deciphered to date.
Symptoms, complaints, and signs
Due to the malfunction of the cilia, affected individuals repeatedly suffer from respiratory infections. Already in infancy, conspicuous coughing as well as a constantly running nose become apparent. In addition, frequent middle ear infections in small children are considered typical, which are difficult to control medically. At the same time, bronchotides or pneumonia are often seen in affected children. Because clearing through the ciliated epithelium is not possible, the only clearing option left is coughing. For this reason, the sick children suffer constantly from coughing. In children and adolescents, chronic sinusitis also occurs as the disease progresses. It is not uncommon for benign growths (polyps) to form on the mucous membrane of the nose. Furthermore, there is a risk that the repeated respiratory infections will result in a mucus-filled bulge in the bronchial system (bronchiectasis). In male patients, reproductive failure is present in about 60 percent of all affected individuals. This is due to immobile or dysmotile sperm tails. Some female patients may also have fertility problems. The reason for this is a disorder of the fallopian tube transport function. Thus, the fallopian tubes are lined with cilia.
Diagnosis and course of the disease
Kartagener syndrome can usually already be diagnosed by the mirror-image organs. In addition, there is a typical pattern of symptoms with respiratory infections.In contrast, it is more difficult to detect primary ciliary dyskenesia without the inverted organ arrangement. Thus, elaborate investigative procedures must be performed. These include a ciliary beat analysis, the removal of a tissue sample (biopsy) to be examined under an electron microscope, and antibody detection of the DNAH5 gene. The course of Kartagener syndrome or PCD varies. For example, some patients present with mild manifestations, while others develop chronic lung failure in mid-adulthood. In such cases, lung transplantation is required. In children, severe gastroesophageal reflux may be present.
Complications
Various symptoms and complications may result from Kartagener syndrome. Usually, 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. Without treatment, these can be fatal in the worst case. Likewise, a strong cough occurs and mucus is constantly discharged from the nose. Not infrequently, patients also suffer from inflammation in the ears, which can further lead to hearing loss. Furthermore, Kartagener’s syndrome leads to restrictions in the genitals, so most patients suffer from reproductive inability. This complaint can cause depression and other psychological distress in many people. The quality of life is generally relatively reduced by Kartagener’s syndrome. If the lungs become damaged by various inflammations or infections, transplantation may be necessary. Life expectancy may also be reduced by Kartagener’s syndrome. If hearing loss occurs, hearing aids can compensate for it. Other symptoms can also be limited with the help of medications or therapies, although there are no particular complications.
When should you go to the doctor?
In any case, children suffering from Kartagener syndrome require close medical monitoring. The condition is usually diagnosed immediately after birth and treated right away 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 consulted, while the deformities themselves must be treated surgically. Since the condition usually also affects the mental state of the affected person, medical treatment should be accompanied by therapy. For this purpose, the parents should contact the responsible physician 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 will relearn essential bodily functions. Since this is a lengthy and strenuous process for all involved, psychological support is also recommended for the relatives. Treatment should begin as soon as possible after the diagnosis of Kartagener syndrome.
Treatment and therapy
Because Kartagener syndrome as well as primary ciliary dyskenesia are congenital, the precipitating cause cannot be treated. Therefore, therapy consists of slowing the progression of the disease and controlling the symptoms. This requires regular sputum examinations, imaging tests such as a computed tomography (CT) scan or bronchoscopy, and functional tests of the lungs. Hearing tests are also performed to determine any hearing loss. Since other organs may also be affected by the disease, treatment by various specialists is necessary. For therapy of respiratory symptoms, inhalations of beta-2 sympathomimetics such as salbutamol, intake of mucolytics such as N-acetylcysteine, and regular physiotherapy measures take place. In addition, the patient should consume plenty of fluids. To prevent secondary damage to the respiratory tract, it may be useful to take antibiotics. In this way, bronchiectasis and pneumonia are counteracted.
Outlook and prognosis
Unfortunately, it is not possible to treat Kartagener syndrome by self-help measures. Only relief of symptoms can be achieved, and medical treatment is mandatory at all times.By adhering to regular check-ups, possible complications can be detected at an early stage and adequate therapy can be administered quickly. Self-medication with over-the-counter medications without prior consultation with the physician is warned with regard to possible interactions. Hearing loss, which is often present, absolutely requires treatment with a hearing aid in order to prevent further deterioration of the sense of hearing. Affected persons are therefore recommended to wear this hearing aid at all times. If there is also a conductive hearing loss, this can usually be treated surgically or, in addition, with a partially implanted hearing aid, while a cochlear implant can be used for sensorineural hearing loss. These measures allow the child to hear adequately and usually ensure normal speech development. Regularly performed functional tests of the lungs allow problems to be detected at an early stage, and respiratory complaints can often be alleviated by physiotherapeutic applications. Patients can also continue some of these treatments at home on their own, thus intensifying their effectiveness. If psychological complaints occur, 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 Kartagener syndrome, as it is an already congenital hereditary disease.
Follow-up care
In most cases, the measures or options for aftercare in Kartagener syndrome are severely limited or not available to the affected person at all. 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 continue to worsen. The earlier a doctor is consulted, the better the further course of the disease usually is. Since Kartagener’s syndrome is a genetic disease, the affected person should in any case undergo genetic testing and counseling if he or she wishes to have children, so that the syndrome does not reoccur in the descendants. The treatment itself depends on the severity of the symptoms, and in most cases it is necessary to take various medications. Those affected should ensure that they take the medication regularly and in the correct dosage in order to alleviate the symptoms in the long term. If antibiotics are taken, alcohol should not be consumed. Likewise, regular examinations and checks of the internal organs are very important in Kartagener syndrome, so that other damage can be detected and treated early.
What you can do yourself
It is not possible to treat Kartagener syndrome by means of self-help. Only relief of symptoms by self-help measures is possible, although medical treatment is essential. As a rule, regular examinations of Kartagener’s syndrome have a positive effect on the course of the disease, since various complications can be detected and treated at an early stage. Regular functional tests of the lungs are also necessary to prevent possible respiratory problems. Since those affected often also suffer from hearing loss, the use of a hearing aid is mandatory in this case. This can prevent further deterioration of the sense of hearing. The patient should therefore always wear a hearing aid to prevent further damage to the ears. The respiratory complaints are often treated by physiotherapy measures. In this case, it is possible for the affected person to perform the exercises and breathing techniques from this therapy in his or her own home, thereby limiting the discomfort. 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 complaints, discussions with parents or friends can be helpful. Contact with other patients can also have a positive effect on the condition of the patient.