Wilson disease

Definition

Wilson disease is rarely found, is a descendant of the disease that is caused due to dump copper (cuprum) excessive in the body. Increasing the rate of copper in slowly in the blood circulation will be dumped, particularly in the brain, liver, kidney and cornea in the eye.

Description

In normal conditions, copper, which comes from processed food will be in the heart. The process of digestion copper is then continued in the bile. Here, the process of digestion occurs with a component of bile (a liquid produced by the liver network, which is then forwarded to the small intestine to help the process of digestion). When the gall bladder to empty the contents at the beginning of the process of small intestine (duodenum), copper in the bile will be out and into the small intestine with the remnants of other digestion. In healthy people, the copper will be removed from the body with feces.

In Wilson disease, copper, which is located in the heart can not go into the storehouse so that the bile in the liver. The increased rate of copper in the network causes the heart kerusakkan hearts so that the copper network will enter and accumulate in the blood stream. Copper then will settle in various oragn body, particularly in the kidney, brain, central nervous system and eyes. Wilson disease is the result of interference of copper poisoning occurred since the start of birth.

Wilson disease affecting approximately 1 in 30,000 to 100,000 people and can affect people from various nations. Approximately 1 of 90 people is the bearer (career) Wilson disease genes.

Causes and symptoms

Wilson disease is a disease that are resesif autosom. Resesif autosom means each of the parents as the (career) disease genes in this pair gennya. If their parents have a chromosome containing the genes of disease Wilson, the children will be a contagious disease. Both men and women can contract the disease. If someone carrying the disease genes Wilson he did not show symptoms of this disease. This disease will appear when someone receives a copy genes from each of their parents. Most cases of the disease Wilson is not revealed but the result of spontaneous mutation in genes.

Wilson disease genes located on chromosome number 13. Ginger is called ATP7B and believed to be involved in the transportation of copper. Since 2001, more than 70 different mutation genes that are known to have succeeded so difficult to enforce the inspection genetic diagnosis.

Symptoms typically arise between the ages of 30 to 60 years and the average age at diagnosis was 17 years old. Half of the people first experienced interference in the liver. The disease causes swelling and perlunakkan hearts. Sometimes accompanied by fever, symptoms such as other diseases such as hepatitis virus infection and mononukleosis. Increasing the rate of liver enzymes in the blood indicate a network kerusakkan serious. Kerusakkan form of a network such as the heart of this degeneration perlemakan. Without proper medical treatment, the heart continues kerusakkan network and changed into liver cirrhosis. Fulminan Hepatitis is a serious situation and that can cause sudden death. Kerusakkan network inflammation and a heavy heart this cause jaundis (yellow), of the fluid in the stomach cavity, the low rate of protein in the blood circulation, blood coagulation disturbances, anemia and brain swelling due to crushing the cells of the blood red rocker.

Symptoms usually appear on the nerves in the first half of the entire people. Symptoms occur as a result of the nerve copper in the brain and nervous system. Average symptoms of the nerve occurs in the age of 21 years. Symptoms such as nerve tremor (trembling) on the hands, move the body that is not restrained, convulsions, frothy mouth, difficulty swallowing, difficulty speaking and headaches. But the intelligence does not affect people.

Approximately 1 / 3 of the overall disease sufferer Wilson have symptoms that vary as a psychiatrist early symptoms of the disease. Symptoms such as psychiatry are not able to control oneself, depression, very sensitive, easy to anger and behavior inappropriate.

Other symptoms that may arise is interference in the pivot, artritis symptoms and complaints on the skeleton such as osteoporosis. Sometimes people have stones in the kidney, a metabolic disorder of blood sugar and menstrual cycles are not regular menstrual samasekali not even a while.

Diagnosis

Wilson disease diagnosis was relatively easy to check with several different, but this disease rarely occurs so that the diagnosis was often delayed. Inspection to enforce disease Wilson can be done on people with symptoms or no symptoms. It is important for upholding the diagnosis quickly and precisely when the heart kerusakkan network before there is another sign of this disease.

An easy way to enforce the diagnosis of disease Wilson is to measure the amount of glikoprotein also called seruloplasmin in the blood. Seruloplasmin a low rate used to enforce the diagnosis of this disease in approximately 80% of people. But this is not an effective way for a woman taking the pill kb, pregnant women or newborn babies up to age 6 months.

Inspection is the second eye examinations to detect the typical deviation form the ring of copper that accumulate in the membranes of cornea (Kayser-Fleischer ring). This is easily checked and are useful in making diagnosis in people who already show symptoms. This inspection is not effective in people without symptoms. This is not a diagnostic examination can be done to determine the diagnosis of this disease because some people with the disease but not heart disease Wilson will give a positive result.

Inspection third uantuk enforce the diagnosis of disease Wilson is determining the rate of the copper network in the liver. This is done by performing liver biopsy on the network. This is one of the most effective way of enforcing the diagnosis of disease Wilson, but inspection is a way tersulit than the other way.

The other inspection is very useful to measure the rate of copper in the urine in a day (at the rate of disease Wilson copper in the urine is very high). Other laboratory examination is the ability for people seruloplasmin binding copper (Wilson disease in this reduced ability). And the last inspection was conducted by Genetic examination. In some people can be diagnosed through DNA examination to determine whether they carry two genes that cause disease Wilson. Inspection is not always useful for all patients and could be used to check the sister-sister from the sufferer.

Therapy

Long-term treatment with D-penisilamin or trientin hidroklorid. Both drugs will remove this pile of copper in the body by binding copper and removed from the body through urine. Diet and low zinc acetate copper is how to treat the disease Wilson.

Penisilamin cause some serious side effects:

* Joint pain
* Hysteria
* Eritematosa systemic Lupus
* Decreasing all the components of blood
* Interruption of blood coagulation
* Reaction alergik

If the patient experienced side effects penisilamin the dose reduced. Another alternative is a steroid used to reduce the sensitive reaction. Trientin have side effects that very few but must be in strict supervision.

Treatment with zinc is also effective to remove the copper pile in the body. Zinc is the metal work that impedes the absorption of copper and copper binding cells in the small intestine to the entire copper issued with kuranglebih feces then 1 week. Benefits of therapy with zinc is a side effect of zinc is not toxic to the body, although how it works later than the other medicines. With this method takes 4 to 8 months to roofing work effectively remove all the copper from the body.

People also are required to undergo a diet low copper, with an average copper Feed the permitted 1.0 mg / day. Food-food flow avoided because many contain copper is the heart and shellfish. Collaboration is also required to supervise the water they drink to avoid increasing the rate of copper in the blood. The best drink is water disuling.

Prognosis

Without therapy, Wilson disease can be ended by death. With therapy, the symptoms will worsen and continue for 6 to 8 weeks first. After that time, started to look real improvement. However, treatment continues until a few years (2 or 5 years old) to obtain maximum results in the brain and heart. Nevertheless many people have been treated, the rate tembaganya never reached the normal rate. Wilson disease sufferer require maintenance therapy with a drug-drug anti-copper throughout his life to prevent the increasing rate of copper in the body. Termination while therapy can cause kekambuhan the settlement and can cause death.