Kartagener Syndrome

Kartagener syndrome is a very rare congenital disorder that is nevertheless quite interesting. The occurrence of the syndrome is about 1: 30,000 newborns, but some physicians claim even higher incidence.

Causes

The disease is caused by an inherited genetic mutation of proteins that are important for flagella and cilia of the cells. There are only few types of cells equipped by the cilia, but their disorder has great consequences. So where are the ciliated cells found? Many are present in the upper and lower airways, in paranasal sinuses, in middle ear and Eustachian tube. The movement of cilia is responsible for removal of impurities, dead bacteria, etc. In addition, ciliated cells can be found in Fallopian tubes where they play an important role in transport of the eggs towards the uterus. In men, every sperm cell is equipped with a tail (flagella), which is a special subtype of cilia. The tail is necessary for proper sperm cell movement.

Symptoms

The manifestations of the disease result from the failure of ciliated cells (or cells equipped with flagella). The disorder of airways causes accumulation of mucus and debris at all levels of the respiratory tract. The secretions are an ideal place for bacterial proliferation causing repeated upper respiratory tract infections, bronchitides and pneumonias. Repeated middle ear infections may cause hearing impairment. The mucus accumulated in bronchi can cause their dilation and emergence of so-called bronchiectasis.

 

Disruption of the reproductive system may cause infertility in both sexes. Women have a problem with transport of the egg to the uterus, while men have immobile sperm cells. Kartagener syndrome is frequently accompanied with condition known in Latin as the “situs inversus viscerum”, which means inverted position of the internal organs. Patients with this peculiarity have heart in the right place (literally) – and not only the heart, but also other internal organs. However, this condition may also occur separately without Kartagener syndrome.

Diagnosis

It is not easy to think of Kartagener syndrome due to its very rare occurrence. When there grows a suspicion of the disease because of the clinical symptoms, the ciliary malfunction can be detected by electron microscopy examination.

Treatment

The treatment of genetic disorders is not currently possible, and we are therefore able to treat only the symptoms. The most dangerous are repeated respiratory infections that worsen and shorten the patient's life. Any such infections must be cautiously treated by antibiotics and the patients should be vaccinated against most frequently occurring causative microorganisms. Resulting bronchiectasis can sometimes be treated surgically. Infertility can be solved with artificial insemination methods.