Learn About Primary Ciliary Dyskinesia (PCD)
Primary ciliary dyskinesia (PCD) is a rare genetic (inherited) condition that can lead to chronic ear, sinus, pulmonary disease (bronchitis/bronchiectasis), reversed or flipped organs (situs inversus) and fertility issues.
- PCD is a genetic condition.
- People with this condition have mutations in genes that control the structure and function of cilia.
- When cilia do not beat properly, the affected individual is prone to infections in the ears (otitis), sinuses (sinusitis), and the lung (bronchitis).
- Eventually, bronchiectasis develops in the lungs.
What Is PCD?
PCD is passed from healthy parents (who carry the gene, but are not affects) to their children through their DNA. People who inherit PCD lack certain building block proteins in cilia (tiny hair-like structures that beat constantly to "clean" the lining tissue of the ears, nose, and bronchial tubes, as well performing other functions in other tissues). This causes the cilia to beat improperly, and fail to clear inhaled particles and bacteria from the lung. This leads to infection and inflammation, and eventually lung damage known as bronchiectasis.
How PCD Affects Your Body
In people with PCD, mucus (sputum) builds up, making them prone to infections of the airways like bronchitis and pneumonia as well as chronic, recurring ear and sinus infections. Lung disease may progress over time and is worsened by environmental exposures such as smoke. This leads to bronchiectasis, where the airways are irreversibly damaged, and harbor excess, sticky mucus, which is an ideal environment for a variety of bacteria.
Some people who have PCD have a condition called situs inversus. This is a condition in which the internal organs (for example, the heart, stomach, spleen, liver and gallbladder) are in opposite positions from where they normally are. Other symptoms may include reduced hearing from chronic damage to the middle ear and a chronic runny nose, or pain and stuffed sinuses. Situs inversus sometimes known as "Kartagener's syndrome" (reversed organs: heart on right, liver on left, and so on) is usually silent (sometimes people are diagnosed with PCD when situs inversus is noticed on an X-ray). Less commonly, babies may be born with more complex organ placement, a condition known as "heterotaxy," which may include congenital heart disease due to abnormal valves or blood vessels. Women may experience difficulty getting pregnant or have tubal pregnancies, and almost all men are infertile as their sperm do not swim properly (like cilia, the sperm tails don't beat).
How Serious Is PCD?
PCD is estimated to occur in 1 about every 15,000 to 20,000 individuals, occurring worldwide, although the disease is commonly under-recognized. Although there are many symptoms associated with PCD, the most serious complication is bronchiectasis, which, in some individuals, may cause serious obstructive lung disease, and even respiratory failure. These people may need to depend on oxygen, breathing machines or even sometimes lung transplantation.
- PCD is a cause of bronchiectasis and is usually under-recognized until it is relatively severe.
- It is often first diagnosed as asthma, bronchitis, or bronchiectasis of unknown cause ("idiopathic").
With good care, people with PCD can remain relatively healthy throughout their lives despite having some impairment of quality of life, mainly with recurring chest infections. Although research is ongoing, and many questions remain to be answered, it is highly likely that early diagnosis, good preventive healthcare, early treatment of infections, and avoiding other risk factors, such as cigarette smoking, can help prevent PCD from progressing to becoming very serious.
Occasionally, despite the best treatment, it may progress to the point that a patient may need a lung transplant.
Last updated April 5, 2018.