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IJHSR. 2016; 6(9): 443-450

Wilsonís disease: A Review on Clinical Presentation, Diagnostic Methods and Treatment.

Babitha Annie Eapen, Ammu A, Jasmin Elizabeth Thomas, Merin Joseph, Apollo James, T Sivakumar.

Wilsonís disease is an inherited disorder characterized by the excessive accumulation of copper or abnormal copper metabolism. It occurs predominantly in the liver and brain. The genetic factor leading to Wilsonís disease is the mutation of copper transporting gene ATP7B.The main clinical symptoms in Wilsonís disease include neurological, psychiatric and hepatic. The primary treatment in Wilsonís disease is use of copper chelating agent such as D-penicillamine and trientine. This review discusses the pathophysiology, etiology, clinical presentation, diagnosis and management of Wilsonís disease.

Key words: Wilsonís disease, Copper, liver, Kayser-Fleischer ring.

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American Journal of Physiology, Biochemistry and Pharmacology


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