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Kartagener syndrome


Other Names for this Disease
  • Dextrocardia bronchiectasis and sinusitis
  • Siewert syndrome
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Overview



What is Kartagener syndrome?

What are the signs and symptoms of Kartagener syndrome?

What causes Kartagener syndrome?

How might Kartagener syndrome be treated?


What is Kartagener syndrome?

Kartagener syndrome is a type of primary ciliary dyskinesia associated with situs inversus (mirror-image reversal of internal organs).[1] Kartagener syndrome is inherited in an autosomal recessive fashion and is characterized by the triad of situs inversus, bronchiectasis and sinusitis.[2] About 50% of individuals with primary ciliary dyskinesia have Kartagener syndrome.[3]
Last updated: 7/12/2011

What are the signs and symptoms of Kartagener syndrome?

Kartagener syndrome is characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus.[4][5] Most children have chronic year-round cough, and chronic sinusitis and nasal congestion. These symptoms often persist into adulthood.[1] Recurrent chronic sinusitis may lead to sinus pressure headaches. Chronic bronchitis and recurrent pneumonia are also common.[5] Chronic/recurrent ear infections are apparent in most young children with Kartagener syndrome, but becomes less apparent by school age. In many infants and young children, chronic otitis media is associated with transient hearing loss that may affect speech development. If untreated, infections of the middle ear may result in irreversible hearing loss.[1][5]

Individuals also have situs inversus totalis, a mirror-image reversal of all organs. The reversed organs do not usually pose a problem.[4][1] Males with Kartagener syndrome may be infertile secondary to impaired sperm motility because the flagella of the sperm and cilia often (but not always) have the same defects.[1][5] Some women with Kartagener syndrome have normal fertility, but others have impaired fertility and an increased risk for ectopic pregnancy because of impaired ciliary function in the fallopian tubes.[1][6]
Last updated: 8/22/2011

What causes Kartagener syndrome?

Kartagener syndrome is caused by an inherited defective gene which causes the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly). As a result, mucous cannot be cleared from the lungs, paranasal sinuses and ears. Bacteria and other irritants in the mucous lead to frequent respiratory infections.[7] Kartagener syndrome is inherited in an autosomal recessive manner. Recent studies have shown that Kartagener syndrome is linked to a region on chromosome 15q.[8] 
Last updated: 8/22/2011

How might Kartagener syndrome be treated?

There is currently no cure for Kartagener syndrome, but affected individuals can be treated for their symptoms.[4] Antibiotics can be used to treat respiratory infections and may be given on a long-term basis as a means of avoiding further infection. Tubes may be inserted into the ears of young children to assist in the avoidance of recurrent ear infections.[5] Because of their susceptibility to pneumonia and infections, people with Kartagener syndrome should get immunized, avoid tobacco smoke, and exercise regularly to prevent sickness.[4] 
  
Last updated: 8/22/2011

References
  1. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. October 6, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1122/. Accessed 7/12/2011.
  2. Casanova MS, Tuji FM, Yoo HJ, Haiter-Neto F. Kartagener syndrome. Dentomaxillofac Radiol. September 2006; http://www.ncbi.nlm.nih.gov/pubmed/16940490. Accessed 7/12/2011.
  3. Primary ciliary dyskinesia. Genetics Home Reference (GHR). August 2010; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia. Accessed 7/12/2011.
  4. Primary Ciliary Dyskinesia. American Lung Association. 2011; http://www.lungusa.org/lung-disease/primary-ciliary-dyskinesia/. Accessed 7/12/2011.
  5. Bent JP, Mosenifar Z. Kartagener Syndrome. eMedicine. April 2009; http://emedicine.medscape.com/article/299299-overview. Accessed 7/12/2011.
  6. Kartagener Syndrome. Online Mendelian Inheritance in Man (OMIM). June 2011; http://omim.org/entry/244400. Accessed 7/12/2011.
  7. Zariwala M. Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Primary%20Ciliary%20Dyskinesia. Accessed 10/13/2008.
  8. Geremek M, Schoenmaker F, Zietkiewicz E, Pogorzelski A, Diehl S, Wijmenga C, Witt M. Eur J Hum Genet. June 2008; http://www.ncbi.nlm.nih.gov/pubmed/18270537. Accessed 10/13/2008.