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What is Primary Ciliary Dyskinesia?

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  • Written By: Angie Johnson-Schmit
  • Edited By: Michelle Arevalo
  • Last Modified Date: 09 December 2016
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Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by abnormal movement of the cilia in the human body. Cilia are tiny, whip-like structures that line the respiratory system including the lungs, esophagus, throat, nasal passages, and ears. When the cilia are functioning properly, they beat in concert, helping to advance mucous through the respiratory system to the throat area, so that it can be expelled through coughing. If the cilia do not move, or move incorrectly, mucous cannot move through the body properly and the possibility of infection increases dramatically.

The term primary ciliary dyskinesia is used to describe a number of genetic defects related to improper cilia movement. One condition that was eventually included under the diagnosis of PCD is Kartagner’s Syndrome. Swiss physician Manes Kartagener identified a cluster of symptoms in 1933 that included chronic bronchitis and sinus infections, as well as situs inversus, or the reversal of the organ placement in the human body. People with Kartagener’s Syndrome were later found to have abnormal cilia, and this syndrome was subsequently included under the diagnosis of primary ciliary dyskinesia.

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Common health problems associated with PCD include chronic bronchial and sinus infections, difficulty clearing mucous from the lungs, a tendency for ear infections, and infertility. It is not uncommon for people with PCD to suffer hearing loss as a result of chronic ear infections. Infertility is also a problem, although in vitro fertilization can be used as an alternate form of conception. The disease is not generally fatal, but the recurrent respiratory infections take their toll on the body and may lead to lasting damage.

Due to the increased respiratory problems, people with primary ciliary dyskinesia often require antibiotics to treat infections. Higher doses and frequent courses of antibiotics can lead to greater susceptibility to drug resistant strains of bacteria. Antibiotics also may kill or inhibit friendly bacteria in the body, resulting in fungal infections. Other common treatments for people with PCD include mucous thinners and various forms of chest therapy. In cases where these less invasive treatments prove ineffective, surgical procedures may be employed.

Primary ciliary dyskinesia is often misdiagnosed, in part because of the secondary illnesses are so common and relatively minor. Another reason for frequent misdiagnosis is that PCD is so rare. Most physicians will begin developing a diagnosis by exploring more common illnesses, such as asthma or allergies. Accurate diagnosis generally requires a biopsy of bronchial or nasal tissue, which is a more invasive procedure. The high incidence of misdiagnosis is unfortunate as early diagnosis can help lessen the long-term damage, especially to the respiratory system, that is caused by the chronic infections associated with PCD.

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