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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Primary ciliary dyskinesia


Other Names for this Disease
  • Ciliary dyskinesia primary
  • ICS
  • Immotile cilia syndrome
  • Polynesian bronchiectasis
  • Polynesian bronchiectasis
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Overview



What is primary ciliary dyskinesia?

What are the signs and symptoms of primary ciliary dyskinesia?

What causes primary ciliary dyskinesia?

How is primary ciliary dyskinesia inherited?


What is primary ciliary dyskinesia?

Primary ciliary dyskinesia is a genetic disease which affects the upper and lower airways of the lungs. Through an inherited defective gene, the cilia (tiny hair-like structures that move mucus out of the respiratory passages) in individuals affected by this condition are either immotile (unable to move) or dysmotile (they move incorrectly). As a result, the body is not able to keep the lungs and sinuses clear of fluids, which can lead to congestion, infection, and various other complications.[1][2] Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.[1]  
Last updated: 5/10/2011

What are the signs and symptoms of primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic oto-sino-pulmonary disease. More than 75% of full-term infants with primary ciliary dyskinesia have 'neonatal respiratory distress' requiring supplemental oxygen. Chronic airway infections begin in early childhood, resulting in bronchiectasis that is almost uniformly present into adulthood. Nasal congestion and sinus infections also begin in early childhood and persist through adulthood. Chronic/recurrent ear infections are present in most young children and can lead to transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 50% of individuals with primary ciliary dyskinesia; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 6%. Approximately 50% of males with primary ciliary dyskinesia are infertile as a result of abnormal sperm motility.[3]
Last updated: 3/15/2011

What causes primary ciliary dyskinesia?

Primary ciliary dyskinesia can result from mutations in at least nine different genes. These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. The movement of cilia also helps establish the left-right axis (the imaginary line that separates the left and right sides of the body) during embryonic development. Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. Mutations in the DNAI1 and DNAH5 genes account for up to 38 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.[4]

Click here to view a list of the genes associated with primary ciliary dyskinesia.
Last updated: 3/15/2011

How is primary ciliary dyskinesia inherited?

Primary ciliary dyskinesia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[4]
Last updated: 3/15/2011

References
  1. Primary Ciliary Dyskinesia. American Lung Association. 2011; http://www.lungusa.org/lung-disease/primary-ciliary-dyskinesia/. Accessed 7/12/2011.
  2. Kartagener's Syndrome. Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation. http://www.kartagener-syndrom.org/cms/index.php/en/deseaseoverview/diseasedefinitions. Accessed 3/15/2011.
  3. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1122/. Accessed 3/15/2011.
  4. Primary ciliary dyskinesia. Genetics Home Reference (GHR). August 2010; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia. Accessed 7/12/2011.