Kartagener syndrome

What causes Kartagener syndrome?

Kartagener syndrome can be caused by changes (mutations) in many different genes. These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway, the reproductive system, and other organs. The coordinated movement of cilia in wave-like motions is important to the normal functioning of certain organs and tissues throughout the body and ensures the proper placement of organs in the developing embryo. Mutations in these genes cause the cilia to be either immotile (unable to move) or dysmotile (they move incorrectly), which leads to the many signs and symptoms of Kartagener syndrome.

Scientists have identified several different genes that are associated with Kartagener syndrome; however, the genetic cause is unknown in some cases.

Last updated on 05-01-20

How is Kartagener syndrome diagnosed?

Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue (biopsy) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease- causing change (mutation) is known, genetic testing can also be used to confirm the diagnosis.

Last updated on 05-01-20

Is Kartagener syndrome inherited?

Kartagener syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

What is the long-term outlook for people with Kartagener syndrome?

The long-term outlook for people with Kartagener syndrome varies widely and largely depends on timely diagnosis and treatment. Chronic childhood infections can be very debilitating. However, with appropriate treatment, the progression of lung disease can be slowed and other complications such as hearing loss can be avoided.

Last updated on 05-01-20

How might Kartagener syndrome be treated?

There is currently no cure for Kartagener syndrome. Treatment varies based on the signs and symptoms present in each person. Airway clearance therapy, similar to that used in cystic fibrosis, can loosen thick, sticky mucus so it can be cleared away. Antibiotics may be prescribed to treat respiratory, sinus, and middle ear infections and may be given on a long-term basis in people with chronic or frequent infections. Surgery to insert ear tubes may be recommended in children with chronic ear infections that are resistant to antibiotics. In people with severe lung disease, lung transplantation may be an option.

For more information on the treatment and management of Kartagener syndrome, please click here.

Last updated on 05-01-20

Name: Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation Email: nc-fuerleru@netcologne.de Url: http://www.kartagener-syndrom.org
Name: Primary Ciliary Dyskinesia (PCD) Foundation 10137 Portland Avenue South
Minneapolis, MN, 55420, United States
Toll Free: 1-844-CURE-PCD (1-844-287-3723) Email: info@pcdfoundation.org Url: http://www.pcdfoundation.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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