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2016•International Journal of Health Sciences and ResearchRequires access

Wilson’s disease: A Review on Clinical Presentation, Diagnostic Methods and Treatment. -

Babitha Annie Eapen, Anusha Ammu, Jasmin Elizabeth Thomas, Merin Joseph, Apollo James, Sivakumar Thangavel

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Abstract

Wilson’s 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 Wilson’s disease is the mutation of copper transporting gene ATP7B.The main clinical symptoms in Wilson’s disease include neurological, psychiatric and hepatic. The primary treatment in Wilson’s 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 Wilson’s disease.

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Wilson’s 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 Wilson’s disease is the mutation of copper transporting gene ATP7B.The main clinical symptoms in Wilson’s disease include neurological, psychiatric and hepatic. The primary treatment in Wilson’s 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 Wilson’s disease.

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Available abstract

Wilson’s 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 Wilson’s disease is the mutation of copper transporting gene ATP7B.The main clinical symptoms in Wilson’s disease include neurological, psychiatric and hepatic. The primary treatment in Wilson’s 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 Wilson’s disease.

Key concepts: Medicine, Wilson's disease, Disease, Etiology, Penicillamine, Presentation (obstetrics), Copper metabolism, Genetic disorder

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