Primary Ciliary Dyskinesia (PCD): Overview

What is primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) is a rare genetic disorder in which defective cilia in the lungs cause lung infections. PCD is also known as "immotile cilia syndrome" or "Kartagener Syndrome."

Cilia are tiny, hair-like structures that line our upper and lower airways to keep our lungs, sinuses and ears free of microbes and debris that can cause infection and disease. Cilia move with our breath to sweep germs and dust particles up and out of our lungs. In children with PCD, cilia don’t move effectively and patients experience recurrent or persistent infections of the lung, sinuses and ears, which also have cilia.

In addition to having non-mobile cilia, approximately half of PCD patients have their internal organs reversed from left to right (situs inversus) and men are usually infertile.

What causes primary ciliary dyskinesia?

PCD is a genetic disorder, meaning that it is inherited from one’s parents and cannot be acquired after birth or from the environment. PCD is generally 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, mutations in more than 10 genes have been found to cause PCD. It is likely that many more mutations in other genes will be discovered as scientists and doctors learn more about the genetic basis for this rare disorder. There may be mutations in up to 200 genes that cause PCD because more than 200 proteins combine together to make motile cilia in the body.

Who gets primary ciliary dyskinesia?

PCD affects both males and females from all racial and ethnic groups. A child can only get PCD if he or she inherits the faulty PCD gene from both parents.

Helpful resources:

  • PCD Foundation provides information about PCD in children and adults as well as opportunities to volunteer or donate to support research and patient services.
  • Genetic Disorders of Mucociliary Clearance Consortium is a network of nine North American Centers that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing particularly on individuals with PCD. 
  • The National Heart, Lung, and Blood Institute provides information about PCD as well as the latest research being done across the United States.