Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Dextrocardia, bronchiectasis, and sinusitis
  • Siewert syndrome
Printer Friendly printer friendly version
Home > Genetic & Rare Diseases Information Center (GARD) > Kartagener syndrome > Questions and Answers


Kartagener syndrome
Please note that the links contained on this search results page may take you to sites outside of the NIH. (See Disclaimer under Site Policies for details.)
For more information about Kartagener syndrome click on the boxes below:
Q&A More
Information		 Support
Groups		 Research &
Clinical Trials		 Services More Search
Tools

I have Kartagener syndrome. As I get older, it seems as if my symptoms are getting worse. I am on a long-term regimen of antibiotics and wondered if there were other options for management of this condition or resources where I can obtain support for a healthy lifestyle.



  • What is Kartagener syndrome? (Back to Top)

  • Kartagener syndrome is a type of primary ciliary dyskinesia associated with situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequence).[3] Kartagener syndrome is inherited in an autosomal recessive fashion and is characterized by the triad of situs inversus, bronchiectasis and sinusitis.[4] About 50% of individuals with primary ciliary dyskinesia have Kartagener syndrome.[1][2]


  • Last Reviewed: 1/5/2009

  • What symptoms might be associated with Kartagener syndrome? (Back to Top)

  • Kartagener syndrome is characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus.[1][2][5] Most children have chronic year-round cough, and chronic sinusitis and nasal congestion. These symptoms often persist into adulthood.[3] Recurrent chronic sinusitis may lead to sinus pressure headaches. Chronic bronchitis and recurrent pneumonia are also common.[5] Chronic/recurrent ear infection is 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.[3][5] Individuals also show situs inversus totalis, a mirror-image reversal of all visceral organs. The reversed organs do not usually pose a problem for the patient.[1][3] 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 ultrastructural and functional defects.[3][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.[3][6] 






  • Last Reviewed: 1/5/2009

  • How might Kartagener syndrome be treated? (Back to Top)

  • There is currently no cure for Kartagener syndrome, but affected individuals can be treated for their symptoms.[1] 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.[1] 
      
  • Last Reviewed: 1/5/2009

  • Where can I learn more about current research for Kartagener syndrome, including studies which may be looking at this condition in different age groups and those working towards new and better ways to treat the symptoms? (Back to Top)

  • ClinicalTrials.gov lists trials that are studying or have studied Kartagener syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. 

    The Genetic Disorders Of Mucociliary Clearance Consortium is a network of four U.S. centers (University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington, and University of Colorado) that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Ultimately, this group hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments. To read more about this consortium and their involvement with primary ciliary dyskinesia and Kartagener syndrome, click on the above link.


  • Last Reviewed: 1/5/2009

  • What is the prognosis for individuals with Kartagener syndrome? (Back to Top)

  • Chronic childhood infections can be very debilitating, but the range and severity of clinical symptoms is wide. Fortunately, the disease usually becomes less problematic near the end of the patient's second decade, and many patients have near normal adult lives.[5]

  • Last Reviewed: 1/5/2009

  • Where can I find support for individuals with Kartagener syndrome? (Back to Top)

  • The following organizations provide information and support to individuals and families affected by Kartagener syndrome. These groups may be able to provide you with guidance regarding maintaining a healthy lifestyle. 

    The PCD Foundation is dedicated to increasing awareness of inherited ciliary disorders and to providing education and advocacy for affected individuals and their caregivers.

    PCD (Primary Ciliary Dyskinesia) Foundation
    29252 N. 22nd. Lane
    Phoenix AZ 85085
    Phone: 623-215-2032 or 612-396-1179
    Fax: 623-215-6670
    Email: info@pcdfoundation.org
    Web: www.pcdfoundation.org

    The Primary Ciliary Dyskinesia Family Support Group was formed to provide support to adults with primary ciliary dyskinesias and parents of children known to have the condition.

    Primary Ciliary Dyskinesia Family Support Group
    67 Evendons Lane
    Wokingham
    Berks RG41 4AD
    United Kingdom
    Phone: 0118 9770258
    Web: www.pcdsupport.org.uk

    The Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation is a German organization formed for people with Primary Ciliary Dyskinesia and Kartagener´s Syndrome, and their families. They are in contact with individuals with this diagnosis all over the world.

    Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation
    Email: nc-fuerleru@netcologne.de
    Web: www.kartagener-syndrome.org

    You may also benefit from contacting the American Lung Association.

    American Lung Association
    61 Broadway 6th Floor
    New York NY 10006
    Phone: 800-LUNGUSA (800-586-4871)
    Primary Ciliary Dyskinesia (including Kartagener syndrome)

  • Last Reviewed: 1/5/2009


References  (Back)
  1. Primary Ciliary Dyskinesia. American Lung Association. May 2003 Available at: http://www.lungusa.org/site/apps/nlnet/content3.aspx?c=dvLUK9O0E&b=2060321&content_id={480D5BF6-41F2-49C3-ADD4-D42666135FEE}¬oc=1. Accessed October 13, 2008.
  2. Kartagener's Syndrome. Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation. Available at: http://www.kartagener-syndrom.org/html_english/erkrankung_definition.html. Accessed October 13, 2008.
  3. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. February 1, 2008 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd. Accessed October 13, 2008.
  4. Casanova MS, Tuji FM, Yoo HJ, Haiter-Neto F. . Dentomaxillofac Radiol. September 2006;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/16940490. October 13, 2008.
  5. Bent JP, Olearczyk M. Kartagener Syndrome. eMedicine. January 3, 2007 Available at: http://www.emedicine.com/med/TOPIC1220.HTM. Accessed October 13, 2008.
  6. Kartagener Syndrome. Online Mendelian Inheritance in Man (OMIM). September 10, 2008 Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400. Accessed October 13, 2008.


Department of Health & Human Services National Institutes of Health USA.gov - government made easy

Note: If you need help accessing information in different file formats such as PDF, MP3, see Viewers, Players, and Plug-ins.