Kartagener Syndrome

Kartagener syndrome (KS) is is a rare, congenital condition associated with: abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract. The syndrome is caused by mutations of genes encoding proteins which are components of sperm, and cilia (hairlike structures found in various bodily tissues) in the respiratory and the reproductive tracts.

Ciliated epithelium covers most areas of the upper respiratory tract, including the nasal mucosa, nasal passages, middle ear, eustachian (auditory) tube, and pharynx (throat). The lower respiratory tract contains ciliated epithelium from the trachea to the respiratory bronchioles. Cilia propel overlying mucus via a 2-part ciliary beat cycle. Patients with KS exhibit a wide range of defects in ciliary ultrastructure and motility, which ultimately impairs ciliary beating and clearance of mucus.

Breeds at Risk

The disease has been reported in Dachshunds, Golden Retrievers, English Springer Spaniels, and Chow Chow.

Signs of Kartagener Syndrome

The progression and severity of lung disease varies among individuals. The progression of lung disease can be slowed with appropriate therapy. Patients with KS may have exercise intolerance, and chronic, thick, discharge from the nose. Nasal polyps are recognized in affected individuals. Ear disease is a common manifestation of KS. Males with KS may be infertile secondary to impaired sperm motility because the flagella of the sperm and cilia often (but not always) have the same ultrastructural and functional defects.

Treatment of Kartagener Syndrome

Aggressive measures to enhance clearance of mucus and prompt antibiotic therapy for bacterial infections. At present, there are no specific therapies to correct ciliary dysfunction. The therapies are aimed at treating consequences of this disorder and the prognosis is usually poor because of complications.

The disease is also known as Primary Ciliary Dyskinesia (PCD), Kartagener Triad, Kartagener's Syndrome, Kartagener's Triad, and Siewert Syndrome.