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Kartagener Syndrome

Abnormal cells in respiratory tract lead to problems

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Updated November 24, 2008

Kartagener syndrome affects the respiratory tract

Kartagener syndrome affects the respiratory tract

Photo © A.D.A.M.
Kartagener syndrome, a type of primary ciliary dyskinesia, is an inherited disorder of special cells called cilia. Kartagener syndrome is estimated to occur in 1 per 32,000 live births, and affects both males and females.

Primary ciliary dyskinesia

The human respiratory tract includes the nose, sinuses, middle ear, eustachian tubes, throat, and the breathing tubes (trachea, bronchi, and bronchioles). The entire tract is lined with special cells that have hairlike projections on them, called cilia. The cilia sweep inhaled molecules of dust, smoke, etc., as well as bacteria, up and out of the respiratory tract.

In primary ciliary dyskinesia, the cilia are defective and don't work properly. This means that mucus and bacteria in the lungs can't be expelled, and as a result, frequent lung infections (such as pneumonia) develop.

Cilia are also present in the ventricles of the brain and in the reproductive system. People with Kartagener syndrome may have headaches and problems with fertility.

Symptoms

Most of the symptoms of Kartagener syndrome result from the inability of the respiratory cilia to function correctly, such as:
  • Chronic sinus infection
  • Frequent lung infections, such as pneumonia and bronchitis
  • Bronchiectasis - lung damage from frequent infections
  • Frequent ear infections
The important symptom that distinguishes Kartagener syndrome from other types of primary ciliary dyskinesia is positioning of the internal organs on the side opposite from normal (called situs inversus). For example, the heart is on the right side of the chest instead of the left.

Diagnosis

Kartagener syndrome is recognized by the three main symptoms of chronic sinusitis, bronchiectasis, and situs inversus. Chest x-ray or computed tomography (CT) scan can detect lung changes characteristic of the syndrome. Taking a sample (biopsy) of the lining of the trachea, lung, or sinuses can allow microscopic examination of the cells that line the respiratory tract, which can identify defective cilia.

Treatment

Medical care for a person with Kartagener syndrome focuses on prevention of respiratory infections, and prompt treatment of any that may occur. Antibiotics can relieve sinusitis, and inhaled medications and respiratory therapy can help if chronic lung disease develops. Small tubes may be placed through the eardrums to allow infections and fluid to drain out of the middle ear. Adults, especially men, may have difficulty with fertility, and may benefit from consulting a fertility specialist.

In many individuals, the number of respiratory infections begins to decrease by about age 20, and as a result many people with Kartagener syndrome have near normal adult lives.

Source:

"What is Primary Ciliary Dyskinesia?" About PCD. PCD Foundation. 24 Nov 2008

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