Kartagener syndrome

Overview

Kartagener's Syndrome is a chronic lung disease that occurs when cilia are unable to move. Kartagener's Syndrome is a rare genetic birth defect. Individuals with Kartagener's Syndrome have abnormal or absent ciliary motion.

Symptoms

Some common symptoms of Kartagener's syndrome:

• chronic rhinitis
• recurrent or chronic sinusitis
• recurrent or chronic bronchitis
• bronchiectasis
• olfactory impairment
• infertility

Causes

Kartagener's syndrome is caused by a ciliary defect. Most people with Kartagener's Syndrome are born with it.

Diagnosis

Diagnosis of Kartagener syndrome is confirmed by identifying the ciliary abnormalities of structure and movement. This is accomplished by biopsy of the mucus membranes of the respiratory tract and/or by examination of sperm, looking for ciliary dyskinesia. Situs inversus can be identified by x ray or ultrasound examination. Infertility investigation may elicit the possibility of Kartagener syndrome in a patient previously undiagnosed. After a diagnosis is made, genetic counseling should be provided to discuss the inheritance pattern, to help identify other possible affected family members and to discuss reproductive options.

Prognosis

Treatment with antibiotics, physiotherapy and appropriate surgical intervention have improved the prognosis in these patients, and in some cases lifespan may be normal.

Resources

Kartagener's Syndrome is also called Primary Ciliary Dyskinesia, and Immotile Cilia Syndrome, Afzelius’ syndrome, Kartagener’s triad, Zivert's syndrome, and Zivert-Kartagener triad.