Definition:
Wilson's disease or hepatolenticular degeneration is said to be an autosomal recessive genetic disorder wherein there is accumulation of copper in the tissues and manifest itself with neurilogical symptoms and liver disease.
Diagnosis:
Diagnosis includes liver function tests and Magnetic Resonance Imaging or MRI, prothrombin test used for coagulation tests and measuring the Alkaline phosphatase levels and Urine tests to determine the level of copper are also advised if there are neurological symptoms. Liver biopsy are also used to confirm the disease.
Treatment:
Treatment includes medication that tends to decrease the copper absorption or remove excess of copper in the body. Occasionally, a liver transplant is also advised. It is also treated with a regular and even life long use of chelating agents such as the used of penicillamine, trientine hydrochloride or tetrathiomolybdate. Taking zinc supplements are also adviced to block the intestine's absorption of copper.
Symptoms and Signs:
Symptoms includes liver disease and neuropsychiatric symptoms (Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007). "Wilson's disease". Lancet 369 (9559): 397-408).
Causes:
The disease is said to be caused by the mutations in the ATP7B gene which is usually pass to the child.
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