Kartagener syndrome, also known as primary ciliary dyskinesia (PCD) or immotile cilia syndrome, is a rare genetic disorder characterized by the defective structure and function of cilia. Cilia are small hair-like structures found in various cells throughout the body, such as the respiratory tract, reproductive system, and the lining of organs like the lungs and sinuses. These cilia play a vital role in moving mucus, bacteria, and other particles out of the body.
Individuals with Kartagener syndrome typically experience a triad of symptoms, including chronic respiratory infections, situs inversus, and infertility. Chronic infections in the respiratory tract, such as bronchitis and pneumonia, occur due to impaired clearance of mucus and pathogens. Situs inversus, which is the reversed position of internal organs, is a common feature within this syndrome. Infertility, primarily affecting males, results from the impaired movement of the sperm.
The underlying cause of Kartagener syndrome is the abnormal structure or absence of the dynein arms within the cilia. Dynein arms are responsible for ciliary movement and function, including the coordinated beating motion required for effective mucus clearance. This genetic defect is typically inherited in an autosomal recessive manner.
Diagnosis of Kartagener syndrome involves clinical evaluation, assessment of ciliary function, and genetic testing. Treatment primarily revolves around managing symptoms and preventing complications, mainly through regular respiratory therapies, antibiotics, and assisted reproductive techniques for individuals seeking fertility assistance.
In summary, Kartagener syndrome is a rare genetic disorder characterized by defective cilia leading to chronic respiratory infections, situs inversus, and infertility. It requires a multidisciplinary approach for diagnosis and management.
