Wilson Disease is a dreadful recessive condition whereby the copper is deposited in the liver, in the brain and the other parts of the body. In case of the defective gene of ATP7B, the body is unable to clear the accumulated copper in the body and results in the destruction of the body organs. The early-testing-that is, checking the level of ceruloplasmin and copper is used in the diagnosis of the disease before a life-threatening damage is caused.
Symptoms Hallucinations This comes in various forms depending on the age of the person affected and the affected organs and this may include:
The mutations in ATP7B gene which plays a crucial role in the clearance of excess copper cause the Wilson Disease. In case ATP7B fails to work:
This deficiency of Ceruloplasin the copper-carrying protein is the protein that is normally tested by the physicians and their presence can be utilized as a support to make a diagnosis.
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Diagnosis It is frequently characterized by measuring blood and urine copper level, finding ceruloplasin in blood (carrier of copper in blood) in blood and liver scans to determine organ injury.
The condition can be diagnosed in weeks where the laboratory test of copper and ceruloplasmin level would be offered and imaging test ordered and evaluated.
Wilson is an incurable disease, but with the correct treatment during the initial phases and sustained therapy, it can regulate the amount of copper in the body and avoid organ damage.
ATP7B genetic testing can confirm the diagnosis process, or therapy may be started in the situation when a patient does not have any unclear clinical and laboratory observations.
Yes. Normal maintenance of cuplerative levels of copper should be maintained by constant monitoring and life long treatment with a chelating agent or zinc supplement.
Yes. The Disease Wilson may manifest itself either at the age of childhood or at the age of adolescence and it must be considered in case certain signs are observed in the young age.
Patients are cautioned to restrict foods that contain high amounts of copper which contain shellfish, organ meat (liver) and nuts, chocolate and some parts of mushrooms.
Absolutely. Regular check-ups should be conducted with the aim of checking the copper level, liver functioning and overall treatment response.
Yes. GastroDoxs will be able to use the local support groups in Wilson Disease and community resources to receive routine assistance and education.
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