Kartagener syndrome is a variety of primary ciliary dyskinesia, which is a hereditary disorder of special cells identified as cilia. In 1904, Siewert initially gave a picture of the bronchiectasis, chronic sinusitis, and situs inversus combination. Nevertheless, in 1933 it was Manes Kartagener who first acknowledged the medical triad as a distinct hereditary syndrome (Bent, 2008). It is inherited through an autosomal recessive pattern, and symptoms are brought about by the malfunctioning of cilia motility.
Kartagener syndrome affects both males and females, and the rate of occurrences in the United States is one for every 32,000 live births (Bent, 2008). Usually, for patients with primary ciliary dyskinesia half of them by chance develops the situs inversus; as a result, for each patient with Kartagener syndrome, another patient has primarily ciliary dyskinesia, and not situs inversus. Causes In general, Kartagener syndrome is caused by alteration in the axonemal dynein intermediary chain gene identified as DNAI1, which is in chromosome region 9p21-p13 (MedicineNet.
com, 2002). Linkage studies, however, have recorded the disease gene to 5p and 19q in a number of families, signifying that Kartagener syndrome is more than a single genetic unit. Symptoms Clinical symptoms of Kartagener syndrome consist of chronic lower and upper respiratory tract disease ensuing from futile mucociliary clearance. A common manifestation is the mucopurulent and rhinorrhea discharges from the time of birth.
Nearly all of the symptoms of Kartagener syndrome develop from the respiratory cilia’s inability to function, such as: (1) chronic sinus infection; (2) persistent lung infections, such as bronchitis and pneumonia; (3) bronchietasis, which is an infection from a damaged lung caused by persistent infections; and (4) recurrent ear infections (Kugler, 2008). However, the noteworthy symptom that tells apart Kartagener syndrome from other types of primary ciliary dyskinesia is the internal organs’ positioning that are opposite from the usual side, which is know as situs inversus.
The heart, for instance, instead of being positioned on the left side of the chest, is on the right side. Diagnosis Kartagener syndrome is identified by the three foremost symptoms of situs inversus, bronchiectasis, and chornic sinusitis (Kugler, 2008). Computed tomography scan or chest x-ray is capable of detecting lung changes distinctive of the syndrome. By obtaining a sample of the inside layer of the sinuses, lung, or trachea, it allows microscopic examination that can distinguish malfunctioning cilia. Treatment
Medical management for person with Kartagener syndrome centers on respiratory infections prevention, as well as timely treatment. Antibiotics can alleviate sinusitis, and if chronic lung disease develops, respiratory therapy and inhaled medications can holdup the advancement. Small cylinders may be positioned through the eardrums to permit fluids and other infections to run down the middle ear. Adults, particularly men, may have difficulty with fertility, and may need the assistance of a fertility specialist to prevent further complications.
Fortunately, by age 20, the number of respiratory infections starts to diminish in many individuals and, accordingly, several people suffering Kartagener syndrome have almost normal adult lives (Kugler, 2008). Conclusion Early diagnosis of Kartagener syndrome can significantly reduce any person’s susceptibility to the infection. Treatment with a range of chest physiotherapy techniques during childhood facilitates the prevention of lung damage caused by infection during vulnerable periods. Unfortunately, identification is normally overlooked early in life even with the characteristic symptoms and signs.
Consequently, these persons eventually develop some severe complications which could otherwise be reduced if timely managed.
References
Bent, J. P. (2008, October 29). Kartagener Syndrome. Emedicine. Retrieved March 24, 2009, from http://emedicine. medscape. com/article/299299-overview Kugler, M. (2008, November 24). Kartagener Syndrome. About. com. Retrieved March 24, 2009, from http://rarediseases. about. com/cs/kartagenersynd/a/041804. htm MedicineNet. com. (2002, August, 6). Definition of Kartagener syndrome. Retrieved March 24, 2009, from http://www. medterms. com/script/main/art. asp? articlekey=4084