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Primary Ciliary Dyskinesia (PCD)

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What is primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired function of motile cilia (cilia that do not work properly). Cilia are tiny, hair-like structures that line the upper and lower airways to keep the lungs, sinuses and ears free of microbes and debris that can cause infection and disease. An example of a microbe is bacteria.

Normally, cilia are constantly moving to sweep germs, such as bacteria, and debris, such as dust particles, out of our airways. In persons living with PCD, cilia don't move as they should. This means the cilia do not clear microbes and debris effectively, which causes children to have recurrent or persistent infections of the lungs, sinuses and ears.

In addition to having frequent respiratory symptoms and infections, almost half of people with PCD have chest and abdominal organs that are located on the opposite side of the normal position, a condition called situs inversus. For example, the heart may be on the right side of the body instead of the left. The abnormal position of organs typically does not cause symptoms. Most symptoms are caused by PCD. Also, men are usually infertile. PCD has also been called "immotile cilia syndrome" and "Kartagener syndrome."

What causes primary ciliary dyskinesia?

PCD is a genetic disorder, meaning that it is inherited from parents. PCD is usually inherited in an "autosomal recessive" fashion, meaning an affected child inherits two copies of a mutated, faulty PCD gene – one from each parent. Parents are considered carriers because they carry one mutation but do not typically have the classic symptoms of PCD themselves.

So far, scientists and doctors have found mutations in over 40 genes that cause PCD. They will likely discover many more mutations in other genes as they learn more about the genetic basis for this rare disorder.

Who gets primary ciliary dyskinesia?

PCD affects both males and females from all racial and ethnic groups. A child can only get PCD if they inherit the faulty PCD gene from both parents.

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Monica Federico, MD

Monica Federico, MD

Pulmonology - Pediatric

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Ricky Mohon, MD

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Emily DeBoer, MD

Emily DeBoer, MD

Pulmonology - Pediatric, Pediatrics

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