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What is Kartagener's Syndrome?

By D. Jeffress
Updated Mar 03, 2024
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Kartagener's syndrome is a rare genetic disorder in which hairlike projections called cilia that line a person's respiratory tract function abnormally. In healthy lungs and airways, cilia move about in a rhythmic motion to prevent mucus buildup and remove germs that can cause infections. A person with Kartagener's syndrome is unable to clear mucus from the respiratory tract, which leads to frequent colds, constant sinus problems, bronchitis, and other health issues. The condition cannot be cured, but doctors can prescribe medications to suppress chronic symptoms and reduce the risk of subsequent infections.

The disorder was first described in detail by the Swiss physician Manes Kartagener in 1933. Kartagener identified the physical symptoms of the condition, but medical knowledge at the time did not allow him to explain the cause. Doctors now know that a very specific genetic mutation leads to irregular production and function of cilia in a fetus's developing respiratory tract. The mutation is carried on a recessive gene and can be passed down through generations.

Mucus and cilia usually work together to trap and clear bacteria from the airways. In the case of Kartagener's syndrome, the bacteria trapped in mucus do not get removed, thus exposing the respiratory tract to frequent acute infections. A child who is afflicted with the condition may suffer from constant sinus pressure, nasal congestion, coughing, and wheezing. He or she is subject to multiple bouts of bronchitis, pneumonia, and colds. In time, inflammation and irritation of the airways can lead to chronic lung disease and ear problems.

Pediatricians can diagnose Kartagener's syndrome by taking chest x-rays and computerized tomography scans of the lungs. A specialist might decide to take a biopsy of airway tissue and mucus to closely inspect the affected cells. Using a microscope, the specialist can clearly see whether or not the cilia exhibit abnormal motion patterns. Once a diagnosis has been made, doctors can determine the best course of treatment.

There is no permanent cure for Kartagener's syndrome, though children can learn to reduce their risk of exposure to bacteria and take daily medications to prevent serious infections. Patients with active infections are usually prescribed antibacterial, anti-inflammatory, and cough suppressant medications to help them overcome symptoms. If Kartagener's syndrome leads to sinus damage or hearing loss, surgery may be necessary to clear passages, remove inflamed tissue from the ear canals, and implant artificial tubes to promote better hearing. With treatment and frequent checkups with their pediatricians, most children are able to avoid chronic health problems and lead normal lives.

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