What Is Primary Ciliary Dyskinesia?

Cilia are tiny structures that can have a big impact on your health. They’re like little “fingers” (you can only see them through a microscope) that extend from your cells. Cilia help your cells move, which helps your body carry out important jobs like breathing and reproducing.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder in which the cilia don’t work properly.

About 1 in 15,000 people around the world has it.

How Does It Affect My Body?

PCD mainly causes problems in your respiratory system. The cilia there are responsible for clearing mucus and bacteria from your airways. If they don’t work as they should, you can’t get rid of infections. This can cause a number of issues, including:

  • Respiratory distress (in newborns)
  • Constant nasal congestion, infections, and coughing
  • Bronchiectasis, meaning damage to the bronchi (the pathways between your windpipe and lungs)
  • Frequent ear infections, especially in children
  • Permanent lung damage

Cilia start working in your body even before birth. In the womb, they’re involved in how your organs are arranged. About half of the people who have PCD have a condition doctors call “situs inversus.”It causes your internal organs to be reversed.

A condition called “situs ambiguus,” or “heterotaxy,” is present in 12% of people who have PCD. It also involves misarranged organs -- namely, your heart, liver, intestine, and spleen.

PCD can also affect your fertility. If the cilia and flagella (tails) of sperm don’t work, they can’t get to where they need to go. About half of men with PCD are infertile. In women, the cilia in the fallopian tubes might not be able to push an egg into the uterus.

What Causes It?

PCD is a genetic condition caused by a mutation (change) in any one of 32 genes that researchers have identified (so far). It’s what’s known as an “autosomal recessive disorder.” That means you get one mutated gene from each parent, and that both parents are carriers of the condition but don’t have any symptoms of it.

Because PCD is genetic, there’s nothing you can do to lower your chances of getting it.

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How Do I Know If I Have It?

The most obvious sign is constant respiratory infections from birth. But PCD is often missed or mistaken for something else. It’s often confused with asthma.

Your doctor will first look for signs of what’s called “chronic sinopulmonary disease.” This affects your sinuses, ears, and lungs. Then he’ll check to see if you have reversed or rearranged organs. If you have PCD, your levels of nasal nitric oxide will be very low. That’s a gas you inhale from your nose and mouth.

Your doctor might also use a genetic test to see if you have PCD. But that can be tricky, because there are a number of genes that could possibly cause the defect. And, there’s more than one possible mutation on any of those genes.

Your doctor will only diagnose PCD if you have a “positive” test result along with the symptoms. Note that a negative genetic test doesn’t mean you don’t have PCD.

What’s the Treatment?

Your doctor will address your major symptoms and figure out how much damage PCD has done to your body. There’s no cure for PCD, but there are treatments. Your doctor can:

  • Closely monitor your lung function and quickly controlling any infections, usually with antibiotics
  • Ensure your airways are as clear as possible
  • Make sure you’re current on vaccines, especially for flu, pneumococcus (bacteria that can cause meningitis and pneumonia), and pertussis (whooping cough)
  • Fit you with ear tubes if you have chronic ear infections
  • Do surgery if you have congenital heart disease caused by heterotaxy
  • Arrange for you to get speech therapy and hearing aids if needed
  • Perform sinus surgery
WebMD Medical Reference Reviewed by Dan Brennan, MD on March 23, 2019

Sources

SOURCES:

Primary Ciliary Dyskinesia Foundation: “What Is PCD?”

Ciliopathy Alliance: “Structure and Function of Cilia.”

Genetics Home Resource: "Primary Ciliary Dyskinesia."

Genetics and Rare Diseases Information Center: “Primary Ciliary Dyskinesia.”

Ciliopathy Alliance: “Primary Ciliary Dyskinesia.”

National Heart, Lung and Blood Institute: “What is Primary Ciliary Dyskinesia?”

Mayo Clinic: "Autosomal Recessive Inheritance."

U.S. National Library of Medicine: “Diagnosis, Monitoring, and Treatment of Primary Ciliary Dyskinesia: PCD Foundation Consensus Recommendations Based on State of the Art Review.”

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