The disease is called Wilson’s disease. This disease is an inherited genetic disorder which is caused by excessive amount of copper in the body’s tissues, which damages the liver and nervous system in human’s body.
A picture of a liver that is affected by the Wilson's disease due to the excessive amount of copper.
The ATP7B gene is a gene that causes the genetic mutation that occurs into the Wilson’s disease. ATP7B gene gives instructions for producing the protein.
The protein that is produced by ATP7B gene is called ATPase 2. This protein plays a role in transporting copper from liver to other parts of the body.
Wilson’s disease was discovered by a British physician, Dr. Samuel Alexander Kinnier Wilson in 1912. He described the condition, and the morbid changes in the brain and liver.
The incidence rate of Wilson’s disease in US is approximately about 1 in 2,000~3,000 based on the research. From the worldwide view, researchers estimated that it is approximately 1 out of 30,000~40,000. As a result, 1 in 90 people may carry the disease gene (ATP7B).
Yes, the Wilson’s disease is common in eastern Europe and Asia, including Sicilians, Southern Italians, Japanese and Chinese people. In addition, women are more likely to develop a liver failure causing Wilson’s disease than men.
The symptoms for the Wilson’s disease vary depending on what parts of the from the body is affected.The symptoms includes: lack of appetite, abdominal pain, Jaundice, getting bruise easily, fluid buildup in legs and abdomen, problem speaking related to swallowing or physical coordination, and uncontrolled movements of muscles.
One of the symptoms for Wilson's disease, which is referred to Jaundice, which makes your eyes turn yellow.
Wilson’s disease is diagnosed by tests such as blood tests, eye exam, genetic testing, and liver biopsy, which these tests can determine the disease for the patients in variety of ways. The blood test and eye exam measures the amount of copper in patient's blood and eyes. The liver biopsy works by inserting a thin needle through patient's skin and to their liver and draw some sample of patient's liver and then they test for excess copper As a result, it is important to diagnose Wilson’s disease as early as possible due to severe liver damage can occur in patient’s body.
This is one of the ways to diagnose for the Wilson's disease, and this is a system called liver biopsy, which the doctor inserts a thin needle in patient's liver to get a broad image of the patient's liver.
Wilson’s disease is treated by medications such as Penicillamine, Trientine, and Zinc acetate, but it can cause some negative effects like causing stomach ache. The medications release the amount of copper into patient’s bloodstream, which is filtered by kidneys and goes to their urine system. These treatments are for preventing copper from rising again. Some people with severe liver damage, surgery is necessary for a liver transplant in patient’s body.
The prognosis (outlook) for a patient who is diagnosed with the Wilson's disease is that if the patients have the affected gene for this disease, the better patient's prognosis is. Which means that Wilson's disease can develop into liver failure and causing brain damage if it is remained untreated. While on the other hand if treatment begun in early stage, it works well and patients can have a normal length of life.
Wilson's disease is an autosomal recessive disease, which means that the occurrence rate of this disease is equal between men and women. The Wilson's disease can be determined by two genes that are received from father and mother. When both parents carry one genetic mutation, it passes on to their child.
From the research, currently scientists working at University of Aarhus are currently working on aiming to investigate macrophage activation markers and correlations to liver fibrosis with patients who are affected by Wilson's disease. Furthermore, researchers wants to make associations to neurologic and metabolic liver function.
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"Associations with Disease Severity and Fibrosis." U.S. Department of Health and Human Services, U.S. National Library of Medicine, 2017. U.S. National Institutes of Health, clinicaltrials.gov/ct2/show/NCT02702765?term=Wilson%27s+disease&rank=1. Accessed 3 Feb. 2017.
"Copper-transporting ATPase 2 isoform a [Homo sapiens]." National Center of Biotechnology Information. NCBI, www.ncbi.nlm.nih.gov/protein/55743071?report=genbank&log$=protalign&blast_rank=1&RID=8Z9CE94V014. Accessed 30 Jan. 2017.
"Inheritance." The Wilson Disease Association. WDA, 1978~2017, www.wilsonsdisease.org/about-wilson-disease/inheritance. Accessed 2 Feb. 2017.
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