Rare Genetic Diseases: Kartenger Syndrome

Kartagener syndrome is a type of primary ciliary dyskinesia. The disease is characterized by situs inversus totalis (mirror-image reversal of internal organs). The frequency of the disease is 1 in 20,000 live births.

The abnormally placed organs usually do not cause any symptoms. However, a lot of the patients with this disease suffer from neonatal respiratory distress as well as frequent respiratory infections, which cause severe lung damage. Furthermore, a recurrent middle ear infection is very common in children and if untreated can lead to hearing loss. Women with this syndrome are infertile.

Kartangener syndrome is inherited in an autosomal recessive manner. This means that the affected individuals have mutation present in both copies of the gene. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers.

The disease can be caused by mutations in various genes. The specific genes have not yet been discovered, however, it is known that they encode for proteins that play an important role in the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the lining of the airway. The dysfunction of the cilia causes the abnormal placement of organs in the developing embryos. Furthermore, the mutations cause the cilia to be immotile, which leads to frequent infections of the airways.

Currently, there is no cure for Kartangener syndrome. However, some treatment options do exist that relieve the symptoms. If the disease is caught early, the patient has a high chance to live a long life.