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Frequently Asked Questions on PCD

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare congenital disease. There are no numbers available about the incidence of PCD, however there must be millions of patients out there.
Because of its rareness it is not known. This FAQ is an attempt to focus peoples attention on PCD.

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What is PCD?

PCD is short for Primary Ciliary Dyskinesia.
Primary means that you are born with it (it is in the genes), Ciliary means that vibrating hairs in all parts of the human body are concerned, Dyskinesia means a disorder in the movement of these hairs.

What is "Kartagener", the Kartagener Syndrome (KS)?

The Kartagener syndrome was named after the person who firstly described the triad of: situs inversus, bronchiectasis and chronic sinusitis. Later it was discovered that all this has 1 cause: PCD.

PCD is technically the most correct term.
KS, ICS and PCD all refer to the same condition, KS patients have situs inversus extra.
KS patients are diagnosed easier because it is PCD + situs inversus.

What is "situs inversus"?

Situs inversus is a condition where organs in the human body are mirrored left-right.
It is assumed that the left-right placement of the organs is randomised due to defective ciliary movement in the embryonal phase. Therefore 50 % of humans with PCD have situs inversus, which is then recognised as "Kartagener".

What is the "Immotile Cilia Syndrome" (ICS)?

ICS is an early name for PCD.
At some time researchers thought that the cilia with this syndrome were completely immotile. Later research showed that the cilia were dismotile instead.

Where are these malfunctioning cilia (or hairs) situated?

There are a number of places in the human body, in particular: the reproduction system, lungs, bronchia and air pipe. In the lungs and bronchia the cilia belong to the cleaning system. The cilia make a continuous wave and wipe out dust particles and disease germs.
PCD patients lack the required "wave" which results in a slow (or no) discharge of mucus. Also dust and germs remain in lungs too long. This provides a nice, moist, warm and even nutritious environment for bugs to live and grow in.

What are the symptoms?

Numerous chest infections and/or suffering a continous "cold", which IS NOT A COLD !!!
Often problems arise immediately after birth, the baby shows oppression. Many chest infections in lungs and air pipe arise the first few years including inflammation of the ears.
Complaints or infections may arise any time while no doctor understands the reason.
Many PCD patients also suffer from allergie and polyps in the nose. Intense fatigue and bad(ly functioning) smell or hearing can be the case.
Often men have badly moving sperm cells, resulting in infertility. Theoretically female infertility is also possible, however, until now there is no proof for this.

How is PCD diagnosed ?

One might think of PCD in case you have:

If you find the above symptoms within your next of kin and/or you suffer infertility then PCD might be your problem.
A further problem often associated with PCD is the so-called "situs inversus" which is a left-right mirroring of the interior in the chest and/or abdominal cavity (your heart is positioned right instead of left). This is the Kartagener Syndrome.
An investigation of the mucus transport and cilia is necessary. If the transport is badly performing and the cilia behave abnormal then a further investigation is needed with respect to the cilia. If, using an electron microscope, the cilia show an abnormal structure then PCD is the diagnosis.

The ultimate method for diagnosis is the cell-breeding method

What about treatment ?

Unfortunately there is no cure for PCD.
However, treatment may help a lot in order to be able to "live with it".
Treatment is very important to prevent irreversible damage to lungs etc..
Pneumonia can be fought with antibiotics. Many patients do well with "coughing-up" the mucus, supporting the mucus transport which helps cleaning-up the airways. This is also an area where physiotherapy may do very well.
Sometimes removal of throat and/or nose tonsils in required. Ear inflammations are relieved by placing small tubes in the tympanum.

What can you do yourself ?

In general: improve the mucus transport.

First of all: DO NOT SMOKE : Smoking is the worst thing a PCD patient (and also any other human) can do to him or herself. Smoke irritates and leads to your lungs producing more mucus (which you don't want).

Exercise: This causes an increase in airway diameter and will open airways that might be narrow or closed. Exercise can also strengthen the chest wall and respiratory muscles. This all can help you to get rid of the mucus.

Breathing (deeply): This is the basis of the physiotherapeutic treatment. Activities such as singing, playing a wind instrument all naturally encourage deep breathing.

Is there any research on PCD going on ?

Yes, at several places genetic research is taking place.

Among others, the VU (Vrije Universiteit) in Amsterdam and the University College London are tracking down the genes that are involved with PCD.
There are teams in Germany, Switzerland and the UK that are searching the DNA for PCD (and other disorders). They are supported by European funding known as the "European Medical Research Project".

Where can I find more information ?

You can send an E-mail to info@p-c-d.org

 

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Last change on this site: Friday December 21, 2007