What Is Primary Ciliary Dyskinesia?
Primary ciliary dyskinesia (PCD) is an inherited condition caused by abnormalities in the cilia. PCD is sometimes referred to as immotile cilia syndrome. Cilia are tiny, finger-like structures that move on the outside of some cells in the body. In the lungs and sinuses, they help sweep mucus so that it can be coughed out. Cilia are also important in the ears. They share structure with the tails of sperm, affecting their ability to swim.
Lung Cilia
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Signs and Symptoms
People with PCD usually have some combination of the following signs and symptoms:
- Neonatal respiratory distress syndrome (difficulty breathing right after birth)
- Chronic cough and excess mucus
- Frequent lung infections (pneumonia, bronchitis) and sinus infections
- Frequent ear infections, sometimes with hearing loss
- Bronchiectasis (damage to the airway from recurrent infections and inflammation)
- Complete or partial left-right reversal of the organs
- Infertility, especially in males due to poor sperm movement
Kartagener Syndrome
About half of people with PCD have Kartagener syndrome. In Kartagener syndrome, the heart, liver, spleen, and intestines are 'flipped'. Sometimes all of the organs are reversed, and sometimes only some of them are. The organs often work normally, but people with Kartagener syndrome sometimes have birth defects, especially in the heart.