Kartagener syndrome

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Kartagener Syndrome

Kartagener Syndrome (pronounced: kar-ta-ge-ner syn-drome) is a rare, autosomal recessive genetic disorder that affects the cilia of the cells in the body. The syndrome is named after the Swiss pediatrician, Manes Kartagener, who first described it in 1933.

Etymology

The term "Kartagener Syndrome" is derived from the name of its discoverer, Manes Kartagener. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Definition

Kartagener Syndrome is characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdomen. Chronic sinusitis is a condition where the cavities around the nasal passages become inflamed and swollen for at least 12 weeks. Bronchiectasis is a condition where damage to the airways causes them to widen and become flabby and scarred.

Symptoms

The symptoms of Kartagener Syndrome can vary but often include chronic sinusitis, bronchiectasis, and situs inversus. Other symptoms may include ear infections, infertility, and respiratory distress.

Diagnosis

Diagnosis of Kartagener Syndrome is often made through a combination of clinical findings and specialized tests such as genetic testing, imaging studies, and biopsy of the respiratory cilia.

Treatment

There is currently no cure for Kartagener Syndrome. Treatment is focused on managing symptoms and preventing complications. This may include physiotherapy, antibiotics, and in severe cases, surgery.

Related Terms

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