Primary ciliary dyskinesia

In the primary ciliary dyskinesia it is a congenital respiratory disease. There is a movement disorder of the cilia.

What is primary ciliary dyskinesia

The disturbed self-cleaning of the cilia results in the typical symptoms of respiratory infections. Most patients have bronchitis, which is often recurring and difficult to treat.
© Henrie - stock.adobe.com

The primary ciliary dyskinesia is also as primary ciliary dyskinesia (PCD) or Kartagener's syndrome known. What is meant is a rarely occurring malfunction of the ciliate-bearing cells. This leads to disturbances in the movements of the cilia (cilia). In Europe, the incidence for primary ciliary dyskinesia is 1: 15,000 to 1: 20,000. In Germany, around 4,000 people have Kartagener's syndrome. The affected people suffer from respiratory infections that occur repeatedly and are caused by a genetic change in the cilia.

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In around 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. Doctors refer to this as situs inversus. If such a mirror-inverted arrangement exists, doctors speak of a Kartagener syndrome. If, on the other hand, there is no situs inversus, it 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 ciliate stroke. Due to mutations, there is a lack of special proteins that are important for the structure of the cilia. Depending on which protein is disrupted, the cilia have a disturbed beat pattern. Sometimes they are also completely immobile. The defect of the outer dynein arms is one of the most common disorders.

Recessive mutations in the DNAH5 gene are present in half of those affected. However, so far only between 50 and 60 percent of the genes that cause primary ciliary dyskinesia have been deciphered. Primary ciliary dyskinesia is transmitted by heredity. The parents pass the disease on to their offspring in an autosomal recessive manner. However, the primary ciliary dyskinesia only becomes noticeable if the genetic defect exists in both parents. This is not how suffering appears in every generation.

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Since the cilia can no longer move sufficiently due to the disease, this results in a disruption of the secretion transport. In addition, the natural self-cleaning of the airways, also known as mucociliary clearance, can no longer be carried out properly. As a result, the body's defense is no longer able to fight off pathogens. As a result, those affected continue to suffer from inflammation of the bronchi, lungs, sinuses, and middle ear.

Symptoms, ailments & signs

The disturbed self-cleaning of the cilia results in the typical symptoms of respiratory infections. Most patients have bronchitis, which is often recurring and difficult to treat. Bronchiectasis is also a typical feature. These are bulges or destruction of the bronchi.

Infertility in male patients is also not uncommon, because the mobility of the seeds is reduced by the malfunction of the cilia. In babies, around 75 percent of those affected suffer from severe respiratory distress syndrome. In the worst case, this can even lead to death. In severe cases, middle-aged adult patients also experience chronic lung failure. Other patients have impaired hearing.

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Diagnosis & course of disease

Determining primary ciliary dyskinesia is not easy due to the various genetic causes. In around 50 percent of all patients, the disease can be diagnosed in childhood and adolescence. However, there are also large numbers of patients suffering from the disease undetected. The nNO measurement (nasal nitrogen monoxide measurement) is a light test that provides important information. The maximum NO content is measured against a resistance.

Alternatively, the patient can hold their breath. In the case of primary ciliary dyskinesia, the nNO values ​​are usually lower than in healthy people. Another important diagnostic method is the analysis of the function of the cilia. This involves taking ciliated cells from the bronchi or nose with a brush swab. In the event of an abnormal finding, an examination with an electron microscope can then be carried out.

The diagnosis can be confirmed by a genetic finding. 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 respiratory tract. The reversed arrangement of the organs usually does not have a negative effect on the patient's condition.

Complications

With this disease, those affected primarily suffer from various ailments that affect the respiratory tract. This often leads to infections, which in the worst case can lead to death. For this reason, those affected need better protection of their respiratory tract and immune system in general against infection and inflammation in order to avoid complications. If the infections are not treated, the bronchi are irreversibly destroyed.

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In many cases, the disease causes men to be unable to conceive. This can have a very negative effect on the relationship with the partner and possibly lead to psychological complaints or depression. As a rule, many affected people also suffer from inferiority complexes.

Furthermore, there is often a shortness of breath, which occurs especially during heavy exertion. Those affected cannot carry out any physically demanding activities or sports. The patient's hearing is also genuinely restricted by the disease, resulting in a reduced quality of life for the patient.

Treatment of this disease is carried out without complications with the help of drugs that inhibit and treat the inflammation. Furthermore, in many cases, patients are dependent on respiratory therapies in order to improve their quality of life. The life expectancy of the person affected may be reduced due to the illness.

When should you go to the doctor?

Breathing disorders should be examined by a doctor. If there is a chronic course of restricted breathing or if the person concerned repeatedly suffers from bronchitis, the observations should be discussed with a doctor.

A feeling of pressure in the area of ​​the lungs, the inability to breathe deeply, or difficulty sleeping indicate health irregularities that should be presented to a doctor. If the person concerned wakes up during night sleep due to decreased oxygen supply, a doctor should be consulted. Help is needed if the shortage of breath causes anxiety or changes in the cardiovascular system. Palpitations, an inner restlessness or the feeling of insufficient oxygen supply should be examined 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 carried out in full, it is advisable to clarify the complaints.

If an acute respiratory distress situation is noticed in an infant, an ambulance service is required. In addition, mouth-to-mouth resuscitation must be given to ensure the survival of the child. In some cases, the patients express a decrease in hearing. If the ambient noise can no longer be sufficiently heard, a doctor should be consulted. If, in direct comparison with people in the immediate vicinity, impaired hearing is found, a doctor should be consulted.

Therapy & Treatment

The cause of primary ciliary dyskinesia cannot be treated. Instead, it is important to stop the disease from progressing.Imaging examinations such as bronchoscopy, pulmonary function tests and sputum analyzes are carried out on a regular basis in order to detect deterioration in health in good time. Hearing tests are also carried out in order to identify any possible hearing loss.

Treatment of the symptoms is at the center of the therapy. For this purpose, intensive respiratory physiotherapy is used, with the help of which excessive accumulations of secretions in the airways can be reduced. In order to cough up stubborn secretions better, table salt should be inhaled consistently. The patient is also given various medicines to treat infections. These include anti-inflammatories, expectorants, and antibiotics.

In some cases, the use of bronchodilators can also be useful. These widen the bronchi and thus relieve breathing difficulties. Drinking plenty of fluids is also considered helpful. In severe individual cases, surgical lung transplantation is sometimes necessary.

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prevention

Primary ciliary dyskinesia is a congenital condition that is inherited. Because of this, it cannot be effectively prevented.

Aftercare

The symptoms of primary ciliary dyskinesia can be alleviated by breathing exercises in the follow-up care. The patients receive precise suggestions on this therapeutic measure from their doctor, and they should also follow the recommendations for appropriate behavior. By regularly participating in respiratory therapy, you can strengthen your lung function.

It also reduces the risk of panic attacks. Another benefit of consistent breathing exercises is the reduced accumulation of mucus so that the airways do not become blocked. Inhaling a saline solution also helps with free breathing. This method is suitable for affected children and adults who suffer from breathing difficulties.

If the doctor prescribes medication, these should be dosed exactly as prescribed. This allows the increased risk of infection to be contained. If necessary, an intensive consultation is useful. Here, patients can talk to their doctor about taking anti-inflammatory drugs and, if necessary, antibiotics.

Depending on the individual case, the patients take the prescribed products permanently in order to protect their bodies as best as possible. After the main therapy, it is important to keep the follow-up appointments to examine the bronchi and lungs. A hearing test can also be useful, as the disease often leads to hearing loss.

You can do that yourself

Patients with primary ciliary dyskinesia have difficulty breathing deeply, which can, among other things, lead to difficulty sleeping. You should therefore consult a doctor in good time. This gives specific suggestions for therapy and for correct behavior in everyday life. Among other things, targeted breathing therapy helps to strengthen the lungs. As part of this respiratory physiotherapy, those affected learn how to breathe properly. At the same time, the accumulations of secretions that block the airways are reduced.

Another means of providing relief in everyday life is inhaling table salt. Regular inhalation helps both children and adults breathe freely again. There are also special medications that reduce the risk of infection. In close consultation with the doctor, patients can take expectorants, anti-inflammatories and antibiotics. These drugs are not only used in acute cases, but they should be taken regularly.

If the resilience decreases due to the reduced oxygen supply, those affected should not expect too much. It is better to first consult a doctor to clarify the symptoms precisely. Important exams that patients should not miss include bronchoscopy and pulmonary function tests. Occasionally, the condition causes hearing loss, so hearing tests are recommended.