Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is a congenital respiratory disease. There is a movement disorder of the cilia.

Primary Ciliary Dyskinesia

What is primary ciliary dyskinesia

Primary ciliary dyskinesia is also known as primary ciliary dyskinesia (PCD) or Kartagener syndrome. What is meant by this is a rarely occurring dysfunction of the ciliated cells. This leads to disturbances in the movements of the cilia (cilia). In Europe, the frequency for primary ciliary dyskinesia is 1:15,000 to 1:20,000. In Germany, about 4,000 people suffer from Kartagener syndrome. The people affected suffer from respiratory infections that occur repeatedly and are caused by a genetic modification of the cilia. See healthknowing for What is the Definition of Hyperemia.

In around 50 percent of all patients, the organs are arranged in a mirror-inverted manner. 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 is present, doctors speak of Kartagener syndrome. On the other hand, if there is no situs inversus, it is referred to as primary ciliary dyskinesia.


Primary ciliary dyskinesia is caused by various genetic defects. These are responsible for a malfunction of the cilia beat. Due to mutations, there is a lack of special proteins that are important for cilia formation. Depending on which protein is defective, the cilia beat in a disturbed pattern. Sometimes they are completely immobile. One of the most common disorders is a defect in the outer dynein arms.

Half of those affected have recessive mutations in the DNAH5 gene. However, so far only between 50 and 60 percent of the genes that cause primary ciliary dyskinesia have been decoded. Transmission of primary ciliary dyskinesia occurs through heredity. Parents pass the disease on to their offspring in an autosomal recessive manner. However, primary ciliary dyskinesia only becomes noticeable if the genetic defect exists in both parents. This is not how suffering appears in every generation.

Since the cilia are no longer able to move sufficiently due to the disease, this disrupts 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 defenses are no longer able to fight off pathogens. As a result, the people affected repeatedly suffer from inflammation of the bronchi, the lungs, the paranasal sinuses and the middle ear.

Symptoms, Ailments & Signs

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

Infertility in male patients is also not uncommon, because the motility of the sperm is reduced by the dysfunction 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 impaired.

Diagnosis & course of disease

Identifying primary ciliary dyskinesia is not easy due to the variety of genetic causes. In around 50 percent of all patients, the disease can be diagnosed in childhood or adolescence. However, there is also a large number of patients who suffer from the disease undetected. The nNO measurement (nasal nitrogen monoxide measurement) is a simple 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 cilia function analysis. Ciliary cells are removed from the bronchi or the nose using a brush swab. In the case of a conspicuous finding, an examination with an electron microscope can be carried out afterwards.

The diagnosis can be confirmed by genetic findings. There is no cure for primary ciliary dyskinesia or Kartagener syndrome. However, the transport of secretions from the respiratory tract can be facilitated by various therapeutic measures. The reverse arrangement of the organs, as a rule, does not have a negative effect on the patient’s condition.


In this disease, those affected primarily suffer from various complaints that affect the respiratory tract. This often leads to infections, which in the worst case can lead to death. Because of this, sufferers need to better protect their airways and immune systems in general against infection and inflammation to avoid complications. If the infections are not treated, the bronchi will be irreversibly destroyed.

In many cases, the disease causes infertility in men. This can have a very negative effect on the relationship with your partner and possibly lead to psychological problems or depression. Many of those affected usually also suffer from an inferiority complex.

Furthermore, there is often shortness of breath, which occurs especially under heavy loads. Those affected cannot carry out any physically demanding activities or sports. The hearing ability of the patients is also honestly limited 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 inflammation. In many cases, patients are also dependent on respiratory therapy in order to improve their quality of life. The life expectancy of those affected may be reduced due to illness.

When should you go to the doctor?

Breathing disorders should be examined by a doctor. If the restricted breathing becomes chronic 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 affected person wakes up during the night sleep due to reduced oxygen supply, a doctor must be consulted. If fears arise due to the lack of breath or if changes in the cardiovascular system develop, help is needed. Heart palpitations, 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 to the full extent, it is advisable to clarify the complaints.

If an acute respiratory distress situation is noticed in infants, an emergency medical service is required. In addition, mouth-to-mouth resuscitation must be performed to ensure the child’s survival. In some cases, patients express a decrease in hearing. If the ambient noises can no longer be heard sufficiently, a doctor should be consulted. If reduced hearing is determined in direct comparison to people in the immediate vicinity, a doctor should be consulted.

Treatment & Therapy

The cause of primary ciliary dyskinesia cannot be treated. Instead, the aim is to stop the progression of the disease. Imaging examinations such as bronchoscopy, lung function tests and sputum analyzes are carried out regularly in order to detect deterioration in the state of health in good time. Hearing tests are also carried out in order to track down any hearing impairment.

Treating the symptoms is the focus of therapy. For this purpose, intensive respiratory physiotherapy is carried out, with the help of which excessive accumulation of secretions in the airways can be reduced. Table salt should be inhaled consistently to make it easier to cough up stubborn secretions. In addition, the patient is 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 expand the bronchi and thus relieve the breathing difficulties. Drinking plenty of fluids is also helpful. In severe individual cases, a surgical lung transplant is sometimes necessary.


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


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

It also reduces the risk of panic attacks. Another benefit of consistent breathing exercises is reduced mucus build-up, preventing airway obstruction. Inhaling a saline solution also helps to breathe freely. This method is suitable for affected children and adults who suffer from breathing difficulties.

If the doctor prescribes medication, it must be dosed exactly as prescribed. This reduces the increased risk of infection. 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 medication permanently in order to protect their body in the best possible way. Following 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, since the disease often leads to hearing loss.

You can do that yourself

Patients with primary ciliary dyskinesia have trouble breathing deeply, which can lead to trouble sleeping, among other things. You should therefore consult a doctor in good time. This gives certain suggestions for therapy and 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 accumulation of secretions that block the airways is reduced.

Another means of relief in everyday life is inhaling table 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-inflammatory drugs and antibiotics. These medicines are not only used in acute cases, but 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 consult a doctor first to clarify the symptoms in detail. Bronchoscopy and pulmonary function tests are among the important examinations that patients must not miss. Occasionally, hearing loss occurs as a result of the condition, so hearing tests are also recommended.