What is cilopathy?

Cilopathy is a wide category of disorders resulting from defective function of cilia, which are microscopic structures similar to the spring that stretches the surface of the majority, if not all, cells in the human body. Disorders are considered genetic because they are the result of some abnormalities or mutations in a particular chromosome or gene. This also means that they can be handed over from one generation to another. Some disorders under cilopatia are Alström's syndrome, nephronophisis and primary ciliary dyskinesia (PCD). Modern research, however, has shown that the existence of cilia is actually necessary for the authorities to function properly. For example, a movable or movable type of cilia helps the respiratory system to filter air so that the body does not apply many irritants. The other side of the IMARY or non -motion cilia serves as a "signal transmitter" to "tell" the kidney to the body that the urine will be released. A defective cilia would therefore result in cilophat disorder that may disrupt the patient's quality of life and even endanger his livet.

Among the many organs in the body, the most commonly affected cilopathy are eyes, kidney and liver. In some cillopathic disorders, all three organs together with the brain are affected. One example is nephronophisis, in which mutated cilia cannot detect a "signal" to prevent the cells from multiplication, so that the kidneys cysts are formed. The primary symptoms of nephronophis are excessive urination and water intake, while some related or "extra-deer" symptoms are progressive blindness, excessive tissue in the liver and mental retardation.

Another species of cilopathy is Alström symbol, very rare condition that includes primary organs such as heart, liver and lungs. It is congenital and affects the patient from birth and can sometimes lead to death in childhood. A defective cilia located in primary organs causes general weakness and increased heart, impaired kidney and liver and obesity function. Some patients canOU also experience photoccitation in their eyes, leading to worse damage to vision in early adulthood.

Many diseases categorized as cilopatia are rare and therefore have to be studied and examined in terms of treatment and treatment. For example, since its discovery in 1959, only about 700 cases of Alstrom syndrome have been documented worldwide.