Primary ciliary dyskinesia
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| Primary ciliary dyskinesia : Primary ciliary dyskinesia is a disorder that is characterized by chronic respiratory tract infections, abnormally positioned internal organs, and difficulties having biological children (decreased fertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia help cells move where they are needed; they also help move substances within the body. Flagella, which are similar to cilia, are tail-like structures that propel sperm cells forward. Without properly functioning cilia, people with primary ciliary dyskinesia often have problems removing fluid and particles from their airways. Most babies with primary ciliary dyskinesia experience breathing problems at birth (neonatal respiratory distress), which suggests that cilia also play an important role in clearing fetal fluid from the lungs. Children with primary ciliary dyskinesia typically have year-round nasal congestion and a chronic cough beginning in the first year of life. Because affected individuals also have trouble removing bacteria from the respiratory tract, they may experience frequent respiratory tract infections beginning in early childhood. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages that lead from the windpipe to the lungs (bronchi). Bronchiectasis can cause life-threatening breathing problems. Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if left untreated. These ear infections are likely related to abnormal cilia within the inner ear. About 40 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, the heart is on the right side of the body instead of the left in these individuals. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. Situs inversus totalis does not typically cause additional health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome. Heterotaxy syndrome (sometimes also called situs ambiguous) is another disorder of organ development that can be associated with primary ciliary dyskinesia. Approximately 9 to 12 percent of people with primary ciliary dyskinesia have heterotaxy syndrome, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome is also a result of problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy syndrome varies widely among affected individuals, and people with this condition may have heart abnormalities that can be life-threatening. Primary ciliary dyskinesia can also cause fertility problems. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia often have decreased fertility. Decreased fertility also occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes, which impairs the movement of the egg cell from the ovary to the uterus. In rare cases, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus). Researchers do not fully understand why some people with primary ciliary dyskinesia develop hydrocephalus. | |
| Review Date: 22/09/2025 | Updated By: |