Kartagener Syndrome

Kartagener syndrome (KS), also known as Primary Ciliary Dyskinesia (PCD), Kartagener Triad, Kartagener's Syndrome, Kartagener's Triad, and Siewert Syndrome, is is a rare congenital condition associated with abnormal 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 in the respiratory and the reproductive tracts. Cilia are hairlike structures found in various bodily tissues. Patients with KS may have exercise intolerance and chronic, thick, discharge from the nose. Nasal polyps and ear disease are commonly seen affected individuals. Males with KS may be infertile due to impaired sperm motility.

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. The disease has been reported in the Dachshund, Golden Retriever, English Springer Spaniel and Chow Chow.

The progression and severity of lung disease varies among individuals and can be slowed with appropriate therapy. Aggressive measures to enhance clearance of mucus and prompt antibiotic therapy for bacterial infections are required. The therapies are aimed at treating consequences of this disorder as there are no cure for ciliary dysfunction. The prognosis is usually poor because of complications.