Primary Ciliary Dyskinesia Causes

Primary ciliary dyskinesia (PCD) is a rare, inherited disease. “Inherited” means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved.

Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and work. Cilia are tiny, hairlike structures that line the airways.

Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. If the cilia don’t work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders.

Figure A shows the organs that primary ciliary dyskinesia can affect. Figure B shows a cross-section of the trachea (windpipe). Figure C shows a closeup view of normal cilia lining the trachea. The cilia move together in wave-like motions to transport mucus toward the mouth. Figure D shows a closeup view of faulty cilia lining the trachea. The cilia are deformed and do not move together, causing a buildup of mucus. — Figure A shows the organs that primary ciliary dyskinesia can affect. Figure B shows a cross-section of the trachea (windpipe). Figure C shows a closeup view of normal cilia lining the trachea. The cilia move together in wavelike motions to transport mucus toward the mouth. Figure D shows a closeup view of faulty cilia lining the trachea. The cilia are deformed and do not move together, causing a buildup of mucus.

If a child inherits a faulty gene (or genes) from only one parent, the child may be a “PCD carrier.” Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children.

Last updated on July 12, 2022