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Primary Ciliary Dyskinesia

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Editors foreword

This is the translated version of the Dutch brochure about PCD.
It is intended for non medical people which have PCD or relatives or friends with PCD.

Funding has been raised to refresh the papers on this web site making it possible to do an update on this brochure later this year (1999).
I will fill in the "TBS" sections within short.
In the meantime I would like to receive comments, especially from English speaking folks, on this document.
I hope you find it useful
Thanks

Introduction

Primary Ciliary Dyskinesia (PCD) is a rare congenital disease, which causes infections in lungs and within the throat nose and ears.
The prevalence of PCD is not known, however estimated to be many hundreds in the Netherlands as well as in the UK.
Because of its rareness it is unknown.
The purpose of this brochure is to inform people with PCD, relatives  or interested.

Within this brochure you will find some experiences of PCD patients and an answer to frequently asked questions.
If, after reading this brochure, you still have questions then you should not hesitate to contact your doctor.

What exactly means primary ciliary dyskinesia?

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.
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.
The photo below shows cilia through an electronic microscope.

Cilia seen through an electronic microscope

Dyskinesia means badly moving or disordered motility.
Summarized: PCD is a congenital disease which shows badly moving cilia.

How the airways are built.

PCD associated problems are shown mostly with the airways, therefore a short description of the airways follows.
The airways consist of the upper (nose, sinuses, ear) airways and lower (lungs) airways.. The breathing system consists of a set of pipes that continues to fork into very thin pipes. Inhaled air enters through the mouth or nose ending in tiny lung bulbs .
Our lung have some 300 up to 600 million lung bulbs.
Most of our airways contains cilia. Apart from cilia 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.

The schematic below illustrates the airways.

Schematic of the airways

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.
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.

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.

Other spots in the human body may also suffer from immotile cilia, such as the tail of the sperm. This could lead to reduced fertility.

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. Sometimes infertility is the case.
Unwanted infertility and mirror image, i.e. your heart is sitting right instead of left, are sometimes the only indications for PCD.
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.
Brochiectasies may develop.

Decreased fertility

Because of the reduced motility of the tail of the sperm, males with PCD could appear to be sub fertile. Normally the sperms swim towards the female egg. Because of the disturbed movement the sperms don't swim very well. That is why some males are less or infertile.
Theoretically it is conceivable that females also suffer from infertility, however, research has not yet shown plain indications.

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.

Genetic aspects

PCD is mainly inherited as an autosomal recessive. This means that PCD must be inherited from both parents. How does this work?

The human body is constructed from billions of cells. All cell contain genetic information which is stored in so-called chromosomes. Chromosomes are the carriers of our genetic properties, which determine the color of the hair/eyes but also control all processes within the body. The medical term for one single property is "gene".
All genes are located on a predetermined position on the chromosomes. Each cell has  46 chromosomes, arranged as 23 pairs. All genes are present twice.
Only the sperm and female egg contain half of the chromosomes. After conception (the fusion of the sperm and the egg) the chromosomes are doubled. This is how the properties are transferred from father and mother to the child.

Schematic of the chromosomes

Congenital diseases may arise when a genetic property contains faults, causing some process within the body to function erroneously.
Each human has numerous faults in his or her genes, however at most times it is compensated by the other half of the genes which is correct.
A person with a compensated fault "carries" the disease while being healthy.  When a child received the fault twice (from both parents) then the disease comes into effect. This way of inheritance is called autosomal recessive.
It is assumed that PCD is inherited this way. 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.

If you have a child desire and PCD is within your family then it is advised to contact a genetic expert center.

Diagnosis

Early diagnosis is very important, because damage to airways and ears must be prevented.
A preliminary test is the observation of the mucociliair transport.

Mucociliair transport

There are two ways to do this test.
The first test uses saccharin, the second uses radio-active particles (isotopes).

With these tests the saccharine or radio-active isotope is placed on the mucus in the nose. After a while (usually this takes 1 hour) it is determined how much particles have moved by the mucus. If the particles moved insufficiently then a deficiency of the mucociliair transport is likely. Further investigation is needed.
Inflammation could be the case or PCD.
If the particles did move sufficiently then PCD is not the case.

With the isotope test the radio-activity is very low causing no harm at all. 1 hour is all it takes, afterwards it is a good idea to blow the nose getting rid of most of it.

The function of the cilia

Animation of ciliary beat The cilia function can be observed through a microscope. The ciliair beat can be observed.

In order to do the test a (small) piece of tissue is required, preferably taken from the nose. Sometimes tissue must be taken from the air pipe, this is cumbersome however. A biopt from the nose is hurts just a little while. Local stupefaction is not possible because it makes the "beat" disappear.

Further investigation

If the mucocliair transport seems NOT to be normal or during microscopic inspection the cilia behave abnormal then further investigations may be needed.
With an electronic microscope the structure of the cilia is examined. This test also requires parts of tissue, mostly several are then taken from the nose, in order to be able to judge the function correctly.

Inflammations cause damage to the mucus, therefore it is preferred to take the biopt when there is no infection. Sometimes it is good to use antibiotics during a few weeks just before the test.

Just recently a new test has come to existence: the cell breeding method (Dutch) making a sure diagnosis.

Treatment

The purpose of treatment is to maintain a good condition and independence, to suppress complications and to pay attention to lifestyle.
Quality of life must be ensured by means of correct treatment.

Physiotherapy

To protect the lungs against the effect of inflammations the airways must be cleared as much as possible. There a several techniques such as tapotage and breathing techniques.

With tapotage the patients is lying flatly on a bed or table and is subject ot 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.

Physio knows a lot of techniques. Discuss possible treatments with them.
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.

Antibiotics

Antibiotics are important in order to prevent bronchiectasies.
The fight bacterial inflammations which are often the cause of chronic bronchitis or pneumonia.
From the sputum the doctor may check which type of antibiotic would be the best.
Sensible use, common in the Netherlands and UK, avoids bacterial immunity.
Viruses cannot be fought by antibiotics.

Mucus dilutors

Hard inflammations may cause the mucus to become more tough. The use of a dilutor may help the secretions to be coughed up easier.

Air pipe widener

PCD patients that have bronchitis may suffer from oppressed breathing. An air pipe widener may help to improve breathing.

Vaccination

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.

Surgery

T.B.S.

Medical passport

T.B.S.

Life with PCD

T.B.S.

Acceptance

T.B.S.

Incomprehension

T.B.S.

Children with PCD

T.B.S.

Genetic research

T.B.S.

Patient support groups

In the Netherlands there is the PCD Belangengroep

Further reading

The scientific shop of the Vrije Universiteit in Amsterdam sells a scientific brochure (in Dutch). At now they are sold out.
The second half of this year the PCD belangengroep will publish a new updated one (also in Dutch)

Colofon

Original text: drs. R.A.P.A. Hessels
Editorial: mw. dr. J.F. Dankert-Roelse, drs. R.A.P.A. Hessels, mw. B.M.C. Lobée, dr. J. Mellink

april 1995,
Updated and translated by R. Visser (PCD Belangengroep) june 1999

 

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Last change on this site: Friday December 21, 2007