What is Primary Ciliary Dyskinesia?

Primary Ciliary Dyskinesia (PCD) is a birth defect affecting the cilia, a very tiny yet very prolific part of the respiratory system. Looking similar to hair, the cilia move together to clear mucus out of the respiratory system. As long as the cilia work properly, this process prevents the buildup of mucus. But with PCD the cilia do not function as they should. The resulting buildup of mucus in the respiratory tract can cause inflammation and regular infections.

PCD also affects the cilia in the reproductive organs, middle ear, and other locations in the body. It is very common (50% chance) for patients with PCD to also be diagnosed with Kartegener’s Syndrome, another birth defect in which the internal organs have grown incorrectly, being in the mirror image of where they should be.

For patients diagnosed with PCD, antibiotics are necessary to prevent infections in the lungs, ears, sinuses, and throat. Frequent infections can lead to lung hardening as with every infection, inflammation occurs. As inflammation repeatedly plagues the alveoli (tiny air sacs in the lungs) it can eventually result in scar tissue. Scar tissue in the lungs may be aided by oxygen therapy but cannot be cured.

The mucus itself can pile up sufficiently to block the airways, especially in young children. And over time, the bronchial tubes can get stretched out and weak, a condition called bronchiectasis. This condition further leads to pneumonia.

PCD has no cure and is a serious condition. It gradually worsens over time, sadly decreasing the life expectancy of some of the children born with it. With watchful care and vigilant therapy, many with PCD can live a full life. Oxygen therapy can assist those with advanced PCD or struggling with the resulting infections.

Symptoms and Treatments for Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a birth defect involving the malfunction of the cilia in the respiratory tract, and other body systems. PCD’s most serious effect is that it prevents the clearing out of mucus in the airways. This buildup of mucus blocks the airways, stretches out the bronchial tubes, and leads to frequent infections, which in turn lead to scar tissue in the lungs.

Ear infections, sinus infections, and respiratory infections are common symptoms of this condition. A chronic cough is another symptom of PCD. Obviously, with this cough comes excess mucus and a difficulty in clearing it. So, those with PCD often visibly struggle with their coughing, looking distressed and sounding strained as they attempt to clear the mucus.

Newborns with PCD often start out with respiratory distress. And for children with PCD, pneumonia, bronchitis and other serious respiratory infections lead to frequent hospitalizations. Even treatment with antibiotics is very difficult since many antibiotics need the cilia to help in clearing out the infected mucus.

The condition affects the sinuses as well so sneezing, sniffling, and other cold-like symptoms are common. Some of the symptoms of PCD are so common and mimic other illnesses, which can lead to a misdiagnosis of cystic fibrosis, “atypical” asthma, or some other condition affecting the lungs.
Physicians therefore need to take a full assessment of the patient’s symptoms and history to accurately diagnose PCD. Typically, the final diagnosis is a lung biopsy.

Once diagnosed, there is no cure for PCD. But at those who are diagnosed early enough can receive treatment with mucolytics (which thin the mucus), steroids (to control inflammation), and bronchodilators (to keep the airways open). Additionally, there are therapies for clearing out mucus through washing and suctioning for the ear canals, sinuses, and even a method for clearing the lungs. These proactive measures prevent the buildup of mucus, thus preventing a worsening of the condition of PCD.

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