A. Trait Investigated

The trait we investigated is on the Wilson’s Genetically Liver Disease. Wilson's disease, also called hepatolenticular degeneration, is a rare autossomal (autosomal : non-sex chromosome: a chromosome other than one that determines sex) recessive inherited disease. It is primarly caused by an acumulation of copper in tissues all over the body, mainly in the liver, brain, kidneys and cornea.

B. Pathogenesis

The copper usually is excreted in the bile. In Wilson's disease, due to an unknown metabolic abnormality, this mechanism is impaired and takes to a progressive accumulation of copper in the organism. Positive copper balance produces a crescent accumulation of copper in the organism primarily in the liver. When the disease progresses and liver injury occurs the copper redistributes to others tissues. If the liver injury is acute the copper may be acutely released in the blood and cause hemolytic anemia. If liver injury is more cronic, the copper may accumulate in the brain and cause neuropsiquiatric symptoms. Also, by a not clear mechanism, the protein that carries copper in the blood, ceruloplasmin, is characteristically low.

B. Clinical Manifestations

The disease affects mostly young patients, the median age being between 8 and 20 years. Any person with recurrent hepatic disease and unexplained neurologic symptoms should be investigated to have Wilson's disease. Liver disease occurs in half of the patients. It may be manifested in four ways: acute hepatitis, chronic active hepative hepatitis, cirrhosis and fulminant hepatitis. Recurrent episodes of liver disease may occur in a variable interval (months to years) until neurologic symptoms develop. Ultimately, all patients develop cirrhosis. The fulminant liver injury may lead to sudden release of copper in the bloodstream and hemolytic anemia with negative coomb's test. This may be a life threatening condition if not promptly corrected.

Neurologic manifestations may occur without liver disease and present in a large variety of ways, including resting and intention tremors, spasticity, rigidity and chorea. Dystonic signs include slowness of speech, unsteady gait, dystonic facies and posturing. Psiqiatric disturbances are present in majority of pacients with symptomatic disease, and include several forms of psychosis and neuroses. The Kayser-Fleischer ring denotes neurologic impairment and consists of copper deposition in the cornea. It presents as a green whish or golden brown ring around the cornea and is path gnomonic of Wilson's disease.

C. Diagnosis

The classic diagnostic triad consists of : (1) Kayser-Fleischer rings, (2) low serum ceruloplasmin (< 20 mg/dl) and (3) increased amounts of amounts liver and urinary copper. The latter sign is also found in other diseases, like primary biliary cirrhosis. About 5 percent of patients with Wilson's disease presents with normal values of serum ceruloplasmin.

D. Treatment

Once diagnosis is firmly confirmed, treatment should start as soon as possible, either in symptomatic or assymptomatics patient.

á     symp·to·mat·ic

1.      medicine indicating illness: indicating or typical of a specific illness
2.      characteristic: typical or indicative of something, especially something undesirable
3.      medicine of symptoms: relating to, affecting, or based on a symptom or symptoms of bodily disorder

Total symptomatic recovery can be achieved if intervention is made early. Otherwise death may not be prevented or recovery will be only partial.

Penicillamine is the drug of choice. It is given orally, in a amount of 1g/d divided in two doses. Response is quite slow and takes one year to maximum effect. Neurologic symptons may worse in the first months of treatment. After 14 days of penicillamine intake, patients often experiment some sensitivity effects, like fever, rash, lymphadenopathy, neutropenia and thrombocytopenia. Prednisone, 20 mg orally, is usually required to treat these reactions associated with penicillamine discontinuation. Late side effects include proteinuria, nefrotic syndrome, systemic lupus erythematosus, goodpasture's syndrome and chronic skin diseases. In these cases, penicillamine should be discontinued for a few months. Trientine or zinc are alternatives to penicillamine. Acute liver injury may not respond to therapy and require liver transplantation. Penicillamine treatment should be lifelong.

IV. Significance of the Study

á     First of all we would like the people around us, and in local villages to know about the Wilson’s disease. For them to be aware that there is such kind of disease. If ever it occurs they know the symptoms, cause and the treatment. It is important for each and everyone to know a little bit about everything.
á     And it is to inform them that the disease affects mostly young patients, the median age being between 8 and 20 years. Any person with recurrent hepatic disease and unexplained neurologic symptoms should be investigated to have Wilson's disease. Liver disease occurs in half of the patients.
á     This is genetical. A person may acquire this from his or her parents.

V. Review of Related Literature

á     Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects one in thirty thousand people world wide. The genetic defect causes excessive copper accumulation. Small amounts of copper are essential as vitamins. Copper is present in most foods, and most people get much more than they need. Healthy people excrete copper they don't need, but Wilson's Disease patients cannot.

Copper begins to accumulate immediately after birth. Excess copper attacks the liver and brain resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood and abdominal pain. They may have tremors, difficulty walking, talking and swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression and aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how the disease begins, it is always fatal, if is not diagnosed and treated.
The first part of the body that copper affects is the liver. In about half of Wilson's Disease patients, the liver is the only affected organ. The physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson's Disease hepatitis. Any unexplained abnormal liver test should trigger thought about Wilson's Disease.
á     The diagnosis of Wilson's Disease is made by relatively simple tests which almost always make the diagnosis. The tests can diagnose the disease in both symptomatic patients and people who show not signs of the disease. It is important to diagnose Wilson's Disease as early as possible, since severe liver damage can occur before there are any signs of the disease. Individuals with Wilson's Disease may falsely appear in excellent health.
Blood, ceruloplasmin, urine copper, eye test for Kayser-Fleischer rings, and liver biopsies are used to make the diagnosis.
á     Wilson's Disease is transmitted as an autosomal recessive disease, which means it is not sex-linked (it occurs equally in men and women). In order to inherit it, both of ones parents must carry a gene which each passes to the affected child. Two abnormal genes are required to have the disease. The responsible gene is located at a precisely known site on chromosome 13. The gene is call ATP7B.
Many cases of Wilson's Disease occur due to spontaneous mutations in the gene. A significant number of others are simply transmitted from generation to generation. Most patients have no family history of Wilson's Disease.
People with only one abnormal gene are called carriers. They do not become ill and should not be treated.
More than thirty different mutations have been identified thus far. Therefore, it has been difficult to devise a simple genetic screening test for the disease. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is possible. This may help in finding symptom-free relatives so that they may be treated before they become ill or handicapped. Someday a genetic test may help in prenatal diagnosis.

VI. Methodology
A.     Materials
We just needed bond papers where we printed our survey questions for the people we used as “samples”. We made a sample survey and let our Statistics Teacher Mr. Sander Soon check it for us. We made surveys to know the knowledge of people regarding our study. And to know how many have it.
B.    Procedure
We went to different classrooms in the High School Building to ask students to take the survey. For each classroom we had about 5 – 10 students who answered. We had a total of around 150 - 200 surveys answered inclusive of those who just played with the surveys.
SAMPLE SURVEY

Hi! We are Marlou, Hema and Agnes. We come from II – 9. This is for our final paper on Biology.

Have you ever heard of the Wilson’s disease?

Do you know someone who has this kind of disease?

Do you know the symptoms of the said disease?

Do you know any treatments for the said disease?

Thank you for participating in our Investigation. Good Day!

Yes

VII. Data and Results

Tallied Answers

VIII. Analysis
A lot of the questions where answered no than yes, which means that a lot of people do not know about the Wilson’s disease. So our survey somehow gave them an idea about it.
These kinds of project help not just students but those who are around them since they get to know new things. They get to touch our subject and somehow are being aware that these diseases are around us. That these diseases are just dressed up differently for us not to distinguish it. So our researches and surveys are some hoe successful.

IX. Conclusion
Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects one in thirty thousand people worldwide. The genetic defect causes excessive copper accumulation. Wilson's Disease is transmitted as an autossomal recessive disease, which means it is not sex-linked (it occurs equally in men and women). In order to inherit it, both of ones parents must carry a gene which each passes to the affected child.

X. Recommendation
Further study should be made about this disease and seminars should be given to people worldwide to be aware of the symptoms and treatments of the Wilson’s disease.

XI. Acknowledgements
We would like to acknowledge our biology teacher (MS. Pia Joyce Espiritu) for helping us in understanding our disease. And our statistics teacher (Sir Sander Soon) for helping us with our survey.

XII. Bibliography
á     Microsoft® Encarta® Reference Library 2003. © 1993-2002 Microsoft Corporation. All rights reserved.
á     http://www.medstudents.com.br/metdis/metdis2.htm
á     www.wilsonsdisease.org
á     www.liverfoundation.org

á http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/

gawa k title page ha...

pki pass ke miss asa malaysia na kc ako.. emergency

Posted by hema on March 24, 2006 at 12:43 PM | Add a Comment

hema requires comments from Tabulas users only. Please login or register an account.