Primary ciliary dyskinesia
Primary ciliary dyskinesia (pronunciation: /ˈpraɪməri ˈsɪliəri dɪsˈkiːniə/), also known as PCD, is a rare, genetically inherited disorder that affects the cilia. The term originates from the Greek words prôtos meaning "first", kílios meaning "hair", and dyskinesia meaning "bad movement".
Overview
Primary ciliary dyskinesia is characterized by chronic respiratory tract infections, abnormally positioned internal organs, and impaired fertility. This is due to the dysfunction of cilia, which are small, hair-like structures present on the surface of all mammalian cells. They are responsible for moving mucus and other substances over cell surfaces, and when they do not function properly, it can lead to a variety of problems.
Symptoms
The symptoms of primary ciliary dyskinesia often begin in infancy and include chronic cough, recurrent ear infections, sinusitis, and bronchiectasis. In males, infertility is common due to immotile sperm, and in females, fertility can be reduced due to problems with the cilia in the fallopian tubes.
Causes
Primary ciliary dyskinesia is caused by mutations in the genes that produce ciliary proteins. It is usually inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder.
Diagnosis
Diagnosis of primary ciliary dyskinesia can be challenging due to the variety of symptoms and their common occurrence in other conditions. It is often diagnosed through a combination of clinical history, physical examination, and specialized tests such as nasal nitric oxide measurement, high-speed video microscopy, and genetic testing.
Treatment
There is currently no cure for primary ciliary dyskinesia, but treatment is focused on managing symptoms and preventing complications. This may include physical therapy to promote mucus clearance, antibiotics to treat infections, and in severe cases, lung transplantation.
See also
External links
- Medical encyclopedia article on Primary ciliary dyskinesia
- Wikipedia's article - Primary ciliary dyskinesia
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