Karthagener's Syndrome and Its Effects On The Respiratory Tract, Reproductive System and CNS

Abstract

Karthagener's syndrome, primary ciliary dyskinesia, hereditary disease of special ciliary cells, which was described by the Swiss doctor Manes Carthagener (1897 - 1975) in 1933. Carthagener's disease is a autosomal recessive genetic disease, two genes are involved in the process - DNAI1 and DNAH5, which mutation is caused by dynein underdevelopment and cilia movement defect.

Human respiratory system includes the nose, sinuses, middle ear, Eustachian tubes, throat, and respiratory tubes (trachea, bronchi, and bronchioles). Respiratory tract is lined with special epithelial cells, which have cilium. Cilium usually act as a broom, that cleans the dust, smoke, toxins and bacteria inhaled by the body. Damaged ciliated component of the epithelial cell (it is caused by a defect of protein dynein) causes abnormal ciliary movement, followed by improper clearance of mucus from sinus cavities and bronchi, which in turn causes  with various problems constantly or repeatedly sino-pulmonary infections. Cilium are also in the ventricles of the brain and the reproductive system. Patients suffering from the Karthagener’s  syndrome may experience headaches (intracranial hypertension may develop, due to insufficient movement of Cerebrospinal fluid(CSF)) and problems related to infertility (fallopian tubes are lined with cilium). Epidemiologically Karthagener syndrome occurs in approximately one in 32,000 newborns and it affects both gender. The syndrome does not depend on race and can occur at any age. The average life expectancy of humans with this syndrome is not determined. Life expectancy depends on how regularly and effectively complications of the syndrome are treated. Especially cautious are the first 20 years. In cases of diligent care the duration of the life of patients suffering from Karthagener's syndrome is equal to the total statistical data. Most of the symptoms of the Karthagener's syndrome are due to delay of  the function of cilia and there are different types.