Wilson's Disease
I have just watched a movie few days ago and the actor in this movie was diagnosed having Wilson's Disease. I've never heard about this disease before. Therefore, I find that this disease is interesting and do some research about this.
Wilson's Disease, also known as Hepatolenticular degeneration, is an autosomal recessive hereditary disease. It is a rare inherited disorder that causes the body to retain copper. In Wilson's disease, a genetic mutation of chromosome 13 affects ATP7B, a protein that helps transport copper into the bile. The liver doesn't release copper into bile as it should. ( Bile is the liquid produced by the liver that helps the digestion.) Then, intestines absorbs copper from consumed food, causing the copper builds up in the liver. As a result, the liver is being injured and the liver releases copper directly to the bloodstream and carries copper throughout the body.
In people with Wilson's disease, copper begins accumulate in the liver immediately after birth. However, the symptoms will appear before the age 30 while sometimes appear much later in life. Mostly, symptoms appear between the ages of 6 and 20.
The most characteristic sign is the appearance of the Kayser-Fleischer ring, a rusty brown ring around the cornea of eye that can be seen only through an eye exam. While some other obvious symptoms are yellowing of the eyes and skin, speech and language problems, tremors in the arms and hands, rigid muscles, clumsiness (ataxia), loss of fine motor skills, difficulty in swallowing, and slowness of movements. A person can be diagnosed by doing an eye exam, detecting the Kayser-Fleischer Ring, and doing tests to measure the amount of copper in the blood, urine, and liver.
Although some ATP7B mutations occur spontaneously, most are passed from one generation to the next. This disease is inherited as an autosomal recessive trait. If both parents are carriers of one abnormal Wilson's gene, they have 25% chance of having a child with 2 normal genes, 50% chance of having a carrier child, and 25% chance of having a child with Wilson's Disease. In fact, Wilson's Disease itself is rare, but as many as one in 100 people has one defective ATP7B gene.
The mostly treatment for Wilson's disease is using drug. There are 3 kinds of drugs used to cure this disease. They are D-penicillmine that removes copper from tissue; Zinc acetate that stops the intestines from absorbing copper and promotes copper excretion; and Tetrathiomolybdate. Tetrathiomolybdate is an investigational drug with a lower toxic profile. It hasn't been approved by the Food and Drug Administration because of its unknown long-term safety and effectiveness.
With early detection and proper treatment, a person with Wilson's disease can enjoy normal life. However, Wilson's disease can cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In this case, that person should do the liver transplantation surgery.
As a conclusion, many scientist still think that it still needs furhter research to treat Wilson's disease.
Wilson's Disease, also known as Hepatolenticular degeneration, is an autosomal recessive hereditary disease. It is a rare inherited disorder that causes the body to retain copper. In Wilson's disease, a genetic mutation of chromosome 13 affects ATP7B, a protein that helps transport copper into the bile. The liver doesn't release copper into bile as it should. ( Bile is the liquid produced by the liver that helps the digestion.) Then, intestines absorbs copper from consumed food, causing the copper builds up in the liver. As a result, the liver is being injured and the liver releases copper directly to the bloodstream and carries copper throughout the body.
In people with Wilson's disease, copper begins accumulate in the liver immediately after birth. However, the symptoms will appear before the age 30 while sometimes appear much later in life. Mostly, symptoms appear between the ages of 6 and 20.
The most characteristic sign is the appearance of the Kayser-Fleischer ring, a rusty brown ring around the cornea of eye that can be seen only through an eye exam. While some other obvious symptoms are yellowing of the eyes and skin, speech and language problems, tremors in the arms and hands, rigid muscles, clumsiness (ataxia), loss of fine motor skills, difficulty in swallowing, and slowness of movements. A person can be diagnosed by doing an eye exam, detecting the Kayser-Fleischer Ring, and doing tests to measure the amount of copper in the blood, urine, and liver.
Although some ATP7B mutations occur spontaneously, most are passed from one generation to the next. This disease is inherited as an autosomal recessive trait. If both parents are carriers of one abnormal Wilson's gene, they have 25% chance of having a child with 2 normal genes, 50% chance of having a carrier child, and 25% chance of having a child with Wilson's Disease. In fact, Wilson's Disease itself is rare, but as many as one in 100 people has one defective ATP7B gene.
The mostly treatment for Wilson's disease is using drug. There are 3 kinds of drugs used to cure this disease. They are D-penicillmine that removes copper from tissue; Zinc acetate that stops the intestines from absorbing copper and promotes copper excretion; and Tetrathiomolybdate. Tetrathiomolybdate is an investigational drug with a lower toxic profile. It hasn't been approved by the Food and Drug Administration because of its unknown long-term safety and effectiveness.
With early detection and proper treatment, a person with Wilson's disease can enjoy normal life. However, Wilson's disease can cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In this case, that person should do the liver transplantation surgery.
As a conclusion, many scientist still think that it still needs furhter research to treat Wilson's disease.
posted by Tiggerdots at 3:02 PM
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