PCD stands for primary ciliary dyskinesia, an inherited disorder of motile (moving) cilia. PCD is also sometimes referred to as Kartagener syndrome (PCD with situs inversus) or immotile cilia syndrome.

Effective activity of motile cilia is required to keep the lungs, sinuses and ears free of organisms and debris that can cause infection and disease. Motile cilia also are important in helping determine organ placement in the developing embryo and in moving the cells of reproduction into place (egg cells through the ciliated fallopian tube in females and sperm via sperm tails that closely resemble cilia in the male). Motile cilia are also found in the ventricles of the brain.

A person with PCD experiences chronic, recurrent infections in the lungs, ears and sinuses due to impaired ciliary activity in those areas. Faulty determination of organ placement (aka ‘situs’) may result in reversed organs or in other organ placement/development abnormalities. Reduced sperm motility means that most males with PCD are infertile (not sterile—the sperm are still viable, they just can’t get where they need to be) and women with PCD may experience subfertility or increased risk for miscarriage or ectopic pregnancy.

With assisted fertility ( IVF etc) many couples where either partner has PCD, have conceived , carried and delivered healthy babies. These babies do not have PCD. PCD may rarely be associated with, genetic problems with eyes (Retinitis Pigmentosa) and hydrocephalus, a condition in which excess fluid in the ventricles of the brain causes them to be enlarged.
PCD is a genetic disorder, meaning it is inherited from one’s parents and cannot be acquired from the environment. PCD is most often passed in what is called an ‘autosomal recessive’ pattern of inheritance, in which the disease is only expressed when a child inherits two copies of a mutated gene—one from each parent. The parents are considered ‘carriers’ because they ‘carry’ the mutation, but are not sick themselves because they only have one copy of the mutated gene. When two carriers produce children, however, they have a 1 in 4 (25%) chance of having a child who will inherit both of their mutations, which will result in the disease being expressed.

Lots of different genes have been found to be abnormal in PCD, but we don’t know everything about PCD genetics at this point, and suspicion of PCD requires diligent workup from PCD experts to make sure that the diagnosis has not been made in error.

PCD is not infectious- you can’t “catch” PCD.
Diagnosis by clinical symptoms alone is not a valid way to confirm PCD because the symptoms of PCD overlap with a number of other disorders. Sometimes it is not possible to confirm the diagnosis of PCD using currently available methods so PCD is simply assumed to be the underlying disorder. This can be useful for directing treatment, but its important to note that a clinical diagnosis alone does not constitute a confirmed diagnosis. Insurance companies often now ask for proof of the diagnosis either by biopsy or genetic testing. Clinical diagnosis alone may also make it difficult to participate in research projects, since accurate data collection requires that the diagnosis be verified.

Ciliary Biopsy- for special tests to check the structure and function of cilia

The only way, currently, to make the diagnosis of PCD is to demonstrate abnormal ciliary beating and internal structure but currently available genetic testing does not pick up all known mutations for PCD and is not widely available ( or funded) in Australia. For this reason, ciliary biopsy performed at a centre trained to collect, process and analyse cilia for PCD is still the ‘gold standard’ for diagnosis.

Ciliary biopsies are relatively simple and safe when performed by experienced staff. Samples of cilia are scraped from the inside of the nose using a tiny brush. There are no anaesthetics required, no preparation and no needles. Because the cells are being scraped, there is some very short term discomfort (less than 6 seconds) and some minor bleeding can occur. The brushing is usually very well tolerated even by very young babies The biopsy is usually performed in the same room as the consultation (not in the operating theatre). The cells are then examined under a microscope and some information will usually be available to you before you leave the room. The internal ciliary structure requires complex and time consuming analysis by highly specialized pathology services. These results take many weeks to complete and rarely change the treatment that your doctor recommends.

Nasal Nitric Oxide (nNO)

Measurement of nNO is an easy, painless breathing test. NNO levels can help doctors to decide whether PCD is likely (and requires further testing to confirm the diagnosis) or unlikely. People with PCD have unusually low levels of nasal NO for as yet unknown reasons. If a person over the age of five has a normal nasal NO level, it is less likely that PCD is the cause of their symptoms.
Our bodies need oxygen to survive. The best way to get oxygen from the outside atmosphere is to breathe in large amounts of air through the nose and mouth into the lungs where it is absorbed into the blood stream and pumped by the heart throughout the body. Unfortunately, outside air also contains things we don’t want in our lungs, like pollutants, germs and dust.

These unwanted particles are breathed in, as well. Sometimes these particles can be dangerous or cause disease, so the body has developed an elegant system for removing unwanted particles called mucociliary clearance. Normal mucociliary clearance requires normally functioning cilia. If mucociliary clearance is impaired, the lungs are not able to effectively remove inhaled particles. Sensing the presence of unwanted elements, the lungs step up production of mucus to flush them out. If the mucus cannot be moved, a vicious cycle of mucus over-production, inflammation and infection occurs. Repeated and chronic infections lead to inflamed and damaged airways, a condition known as bronchiectasis.

In PCD, mucociliary clearance system is profoundly impaired from birth.
There is no cure for PCD, but active treatment can definitely slow the progression of bronchiectasis, reduce the burden of symptoms and improve quality of life. The earlier that the diagnosis is made, and the earlier that active treatment is started, the better the likely response to treatments. Research is the key to better treatments and ultimately a cure. Supporting research efforts in PCD is the most important thing you can do to improve the quality of life for those with PCD.
Lung transplant is sometimes required in a small number of patients with lung failure associated with PCD. Most patients with PCD never get sick enough to require a transplant.
There is a great deal of work to do in PCD research, education and awareness and every member of the PCD community has a valuable contribution to make. We need a strong patient advocacy group to lead the charge and dedicated volunteers in the community to spread the message. There are many ways you can help.

Here are some ideas:

  1. Make a donation. Unlike dollars donated to general lung organizations, donations to the PCDF go directly to support PCD research, education and advocacy efforts.
  2. Volunteer in your community. Fundraising is only one way you can establish a presence for PCD in your community. Consider talking to local hospitals, nursing/medical schools, your child’s school or local media about PCD.
If you want help with what to say, contact us any time!.

Annual membership to PCD Australia runs from 1 July to 30 June and helps us to cover the increasing administration costs involved in running a professional organisation. Your valued contribution means that we can continue to provide these services and others to support our PCD families around the country.

Ordinary Membership is open to those affected by PCD and their extended families and friends. The first year of membership is now free, to enable members to access resources that will be available in the future through a secure community.

To continue membership after the first year, an annual fee will be applicable due on 1 July each year. Currently membership costs $25 per family ($10.00 for concession card holders).  Any new members wishing to pay for membership will receive 2 years of membership.

We hope we will be able to offer some great loyalty benefits to financial members in the near future!

The information contained on this site does not constitute medical advice and the PCDF cannot respond to questions from patients about individual therapies.

The goal of presenting these FAQs and information of a possible treatment picture is not to suggest that this what every PCD patient should be doing, but to make you aware of options for treatment which may or may not be appropriate for you at this time. PCD is rare disorder that is still being investigated.

No one has all the answers about the best or most effective way to treat PCD right now . These FAQs are an effort to address some of the most common questions about PCD that affect the patient population as a whole with the most up-to-date information currently available.

No single treatment plan or therapy is right for everyone with PCD and it is important to consult your physician.