Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare congenital disease, which causes infections in lungs and within the throat nose and ears. PCD is mainly inherited as an autosomal recessive. This means that PCD must be inherited from both parents. So, when both parents carry the PCD defect in their genes, there is a 25 % probability at each pregnancy that the child has PCD, a 50% chance that the child is carrier of the PCD defect.
     Estimated is that 1 out of 15000 humans has PCD. In the Netherlands this would mean that there are 500 up to 100 people with PCD. Prevalence is equally amongst all races and both sexes. At now it is not (yet) possible to assess if a person is PCD carrier. Inflammation could be the case or PCD. If the particles did move sufficiently then PCD is not the case.

What does Primary Ciliary Dyskinesia mean?
      Primary means that there is no cause from the outside. It is something you inherited.
     Ciliary indicates the cilia which is Latin for vibrating hairs. A number of locations in a human body have vibrating hairs, such as the airways and the reproductive system. Most of our airways contains cilia. A part from cilia is also mucus. Inhaled dust comes on top of the mucus. The cilia perform a beating move, causing the mucus, including the dust particles, to move into the direction of the throat. This way the lungs are kept clean and are enabled to perform well. Cilia are very small, i.e. smaller than 1/100 of a millimeter and thinner than 1/1000 of a millimeter. Therefore they can only be observed through a microscope.
     Dyskinesia Dys-ki-nes-ia means badly moving or disordered motility.
Summarized: PCD is a congenital disease which shows badly moving cilia.

What is PCD?
     The cilia in the airways perform cleaning. By making the "wave" they wipe away small particles and bacteria which are sitting in the mucus in the direction of the throat. A human with PCD the cilia don't do the wave very well. It is either too slow, too fast or uncoordinated. This is why the mucus transport is slower than normal, therefore bacteria and dust stay within the longer which increases the probability to infections. Indications as having a "cold" -which is not the case- could be caused.
     More than 75 % of PCD patients suffer a continuous "cold". The insufficient wave causes accumulation of mucus in the smaller airways. This is a good place for breeding bacteria, which cause infections. At now there is no cure, however the problems can be reduced. Treatment consists mainly of physiotherapy to clear the airways and medicine. Medicine reduces the problems and the probability of complications such as the developing of bronchiectasis. PCD is not contagious.

What are the symptoms?
     The majority of problems that are experienced by people with PCD related to the airways.
     New born babies with PCD may have lots of breathing problems. Coughing, recurring complaints inflammations at the ears, sinuses, bronchitis and pneumonia are frequent. The history of PCD patients mostly shows breathing problems directly after birth without an evident cause.
     The severity of problems may differ. Humans with PCD often are more sensitive to weather and season changes, especially during wintertime problems may become worse or more frequent. PCD patients may expect to live as long as a normal human. Problems, such as fatigue, low weight, speech defect, eating problems, unwanted childlessness, disturbed or absent smell occur often with PCD patients.

     Inflammations of the lungs (chronic) bronchitis and pneumonia
Infection of the airways is called bronchitis. Pneumonia means that the lung itself is infected.
     Frequent pneumonia may cause permanent damage. The walls may become destroyed. Secretions are likely to remain sitting in the lungs which makes the problem of inflammations bigger. Ultimately the damage cold cause the decline of the function of the lungs, breathing becomes more difficult. Antibiotics are important in order to prevent bronchiectasies.
     Frequent infections affect the small air pipes, which loose their flexibility and become worn-out, which then may contain even more secretions. This makes the infections more and more difficult to fight. The wide and worn-out parts of a lung are called bronchiectasis.
The fight bacterial inflammations which are often the cause of chronic bronchitis or pneumonia.
     Viruses make it easier for other sicknesses to settle in the airways.
It is usually a good idea to get a yearly vaccination against influenza (the flue, which is a virus). Unfortunately this does not protect against other viruses.

Situs inversus / Kartagener syndrome
     Situs inversus medical language for organs being on the opposite side to normal. This may appear both in the chest and belly. One or more organs may be sitting at the wrong side.
During the growth and development of the embryo something went wrong during the placement of the organs. The heart may be situated at the right instead of the left. Situs inversus has no disadvantages with respect to those organs. The exact cause is still unknown.
Situs inversus is rarely seen. Nevertheless 50 % of humans with PCD also have situs inversus. Why this happens so often in together with PCD is unknown.
     The combination situs inversus + PCD is called the Kartagener Syndrome.

Treating PCD
     To protect the lungs against the effect of inflammations the airways must be cleared as much as possible. There is several techniques such as tapotage and breathing techniques.
     With tapotage the patients is lying flatly on a bed or table and is subject to a rhythmic "beat" by the hands of a physiotherapist or friend/parent, it is a relatively simple technique.
The beating causes the secretions to get loose, enabling to cough it up and swallow it.
     Tapotage, however, is not suitable for everyone and needs to be discussed with the doctor or physiotherapist.
     The "Forced Expiration Technique" (FET) is also used to force the secretions upwards by means of a strong air current through the air pipe. This also occurs during coughing.
     FET also uses deep breathing combined with relaxing. This method may very well be effective because it reaches the smaller airways in the lungs also. It can be done by the patient him/herself also. Positioning using gravity which helps to drain the secretions may be useful, i.e. the patient sleeps feet up, head down. Also during FET exercises this may prove helpful.
     Sport is important for humans with PCD. It not only provides good condition, but also, during sports the high level of breathing supports the mucociliar transport.