Primary ciliary dyskinesia is a congenital respiratory disorder. It involves a movement disorder of the cilia.
What is primary ciliary dyskinesia?
Primary ciliary dyskinesia is also known as primary ciliary dyskinesia (PCD) or Kartagener syndrome. This refers to a rarely occurring functional disorder of the ciliary-bearing cells. In this case, there are disturbances in the movements of the cilia (cilia). In Europe, the frequency of primary ciliary dyskinesia is 1:15,000 to 1:20,000. In Germany, about 4000 people suffer from Kartagener’s syndrome. The affected individuals suffer from respiratory infections that occur repeatedly and are caused by a genetic change in the cilia. In about 50 percent of all patients, the organs are arranged in mirror image. For example, the heart is not on the left side of the body, but on the right. Physicians refer to this as situs inversus. If such a mirror-inverted arrangement is present, doctors refer to it as Kartagener syndrome. If, on the other hand, there is no situs inversus, the condition is referred to as primary ciliary dyskinesia.
Causes
Primary ciliary dyskinesia is caused by various genetic defects. These are responsible for a malfunction of the ciliary beat. Mutations cause a lack of specific proteins that are important for cilia formation. Depending on which protein is defective, the cilia have a disturbed beating pattern. Sometimes they are completely immobile. One of the most common disorders is the defect of the outer dynein arms. Half of the affected individuals have recessive mutations of the DNAH5 gene. However, only between 50 and 60 percent of the genes causing primary ciliary dyskinesia have been deciphered to date. Transmission of primary ciliary dyskinesia is by inheritance. Thus, parents pass the disease to their offspring in an autosomal recessive manner. However, primary ciliary dyskinesia is only noticeable if the genetic defect is present in both parents. Thus, the condition does not appear in every generation. Since the cilia can no longer move sufficiently due to the disease, this results in a disturbance of the secretion transport. In addition, the natural self-cleaning of the respiratory tract, also known as mucociliary clearance, can no longer be carried out properly. As a result, the body’s defenses are no longer able to fight off pathogens. As a result, affected individuals suffer recurrent inflammation of the bronchi, lungs, sinuses and middle ear.
Symptoms, complaints, and signs
The impaired self-cleaning of the cilia results in the typical symptoms of respiratory infections. Most patients suffer from bronchitis, which is often recurrent and difficult to treat. Bronchiectasis is also considered a typical feature. These are bulges or destructions of the bronchial tubes. Infertility in male patients is also not uncommon, because the mobility of the sperm is reduced by the malfunction of the cilia. In babies, about 75 percent of those affected suffer from severe respiratory distress syndrome. In the worst case, this can even lead to death. In severe cases, chronic lung failure also occurs in middle-aged adult patients. In other patients, hearing is again impaired.
Diagnosis and course of the disease
Identifying primary ciliary dyskinesia is not easy because of the various genetic causes. In about 50 percent of all patients, the disease is successfully diagnosed in childhood and adolescence. However, there are also a large number of patients who suffer from the disease undetected. An easy test that provides important information is the nNO measurement (nasal nitric oxide measurement). This involves measuring the maximum NO content against a resistance. Alternatively, the patient can also hold his breath. In the case of primary ciliary dyskinesia, nNO levels are usually lower than in healthy individuals. Ciliary function analysis is another important diagnostic procedure. In this procedure, cilia-bearing cells are taken from the bronchial tubes or the nose by means of a brush swab. In the case of conspicuous findings, an examination with an electron microscope can follow. The diagnosis can be confirmed by genetic testing.A cure for primary ciliary dyskinesia or Kartagener’s syndrome is not possible. However, various therapeutic measures can facilitate the transport of secretions from the airways. The lateral arrangement of the organs usually does not adversely affect the patient’s condition.
Complications
In this disease, the affected person primarily suffers from various complaints affecting the respiratory tract. Here, infections often occur, which in the worst case can lead to death. For this reason, sufferers must better protect their respiratory tract and immune system in general against infections and inflammations in order to avoid complications. If the infections are not treated, the bronchial tubes will be irreversibly destroyed. In many cases, the disease causes infertility in men. This can have a very negative effect on the relationship with the partner and possibly lead to psychological complaints or depression. Many of those affected also suffer from inferiority complexes. Furthermore, there is often shortness of breath, which occurs especially during heavy exertion. As a result, those affected cannot perform any physically strenuous activities or sports. Also the hearing ability of the patients is honestly limited by the disease, so that it comes to a reduced quality of life of the patient. The treatment of this disease is carried out without complications with the help of medications that inhibit and treat the inflammations. Furthermore, in many cases, patients rely on respiratory therapies to improve their quality of life. Possibly, the life expectancy of the affected person is reduced due to the disease.
When should you see a doctor?
Respiratory disorders should be evaluated by a physician. If a chronic course of restricted breathing is evident or if the affected person repeatedly suffers from bronchitis, the observations should be discussed with a physician. A feeling of pressure in the area of the lungs, the impossibility of deep breathing or sleep disturbances indicate health irregularities that should be presented to a physician. If the affected person wakes up during night sleep due to a reduced oxygen supply, a doctor must be consulted. If anxiety develops due to shortness of breath or changes in the cardiovascular system develop, help is needed. Heart palpitations, an inner restlessness, or the feeling of an undersupply of oxygen should be investigated and treated. There is also a need for action if there is a decrease in physical resilience or rapid fatigue. If sporting activities can no longer be fully performed, clarification of the symptoms is advisable. If acute respiratory distress is noted in infants, emergency medical services are required. Additionally, mouth-to-mouth ventilation must be performed to ensure the infant’s survival. In some cases, patients express a decrease in hearing. If ambient sounds can no longer be perceived adequately, a physician must be consulted. If decreased hearing is noted in direct comparison to people in the immediate environment, a visit to the physician should be made.
Treatment and therapy
Primary ciliary dyskinesia cannot be treated causally. Instead, the goal is to halt the progression of the disease. To detect worsening health conditions in a timely manner, imaging studies such as bronchoscopy, pulmonary function tests, and sputum analysis are performed regularly. Hearing tests are also performed to detect any hearing loss. The focus of therapy is on treating the symptoms. To this end, intensive respiratory physiotherapy is performed to help reduce excessive accumulations of secretions in the airways. To improve the coughing up of stubborn secretions, saline should be inhaled consistently. In addition, the patient is given various drugs to treat infections. These include anti-inflammatories, expectorants and antibiotics. In some cases, the use of bronchodilators may also be useful. These dilate the bronchial tubes and thus relieve breathing difficulties. It is also helpful to drink plenty of fluids. In severe individual cases, surgical lung transplantation is sometimes necessary.
Prevention
Primary ciliary dyskinesia is a congenital disorder that is inherited. For this reason, it cannot be effectively prevented.
Aftercare
The symptoms of primary ciliary dyskinesia can be alleviated during aftercare, primarily through breathing exercises. Patients receive precise suggestions from their physician regarding this therapeutic measure, and they should also follow the recommendations for appropriate behavior. By regularly participating in breathing therapy, they can strengthen their lung function. It also reduces the risk of panic attacks. Another benefit of consistent breathing exercises can be seen in the reduced accumulation of mucus so that the airways do not become clogged. Inhaling a saline solution also helps with free breathing. This method is suitable for affected children and adults who suffer from respiratory problems. If the doctor prescribes medication, it should be dosed exactly as prescribed. This will help contain the increased risk of infection. If necessary, an intensive consultation is advisable. Here, patients can talk to their doctor about taking anti-inflammatories and, if necessary, antibiotics. Depending on the individual case, patients take the prescribed drugs on a permanent basis to protect their bodies as best as possible. Following the main therapy, it is important to keep follow-up appointments to examine the bronchial tubes and lungs. A hearing test may also be useful, as the disease often causes hearing loss.
Here’s what you can do yourself
Patients with primary ciliary dyskinesia have trouble breathing deeply, which can lead to sleep disturbances, among other things. Therefore, they should consult a doctor in time. The doctor will give certain suggestions for therapy as well as for the right behavior in everyday life. Among other things, targeted respiratory therapy helps to strengthen the lungs. As part of this respiratory physiotherapy, those affected learn how to breathe properly. At the same time, the accumulation of secretions that block the airways is reduced. Another means of relief in everyday life is inhalation of common salt. Regular inhalation helps both children and adults to breathe freely again. In addition, there are also special medications that reduce the risk of infection. In close consultation with the doctor, patients can take expectorants, anti-inflammatories as well as antibiotics. These medicines are not only used in acute cases, but they should be taken regularly. If, due to the reduced oxygen supply, the ability to cope with stress decreases, those affected should not expect too much of themselves. It is better to consult a doctor first to clarify the symptoms in detail. Among the important examinations that patients should not miss are bronchoscopy and pulmonary function tests. Occasionally, hearing loss occurs due to the disease, therefore hearing tests are also recommended.
