alexa Abstract | Wilsons Disease

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Wilson disease is an inherited autosomal recessive disorder due to mutations of ATP7B gene. ATP7B gene is responsible for encoding copper-transporting P-type ATPase. As ATP7B gene undergo mutations, incorporation of cu into ceruloplasmin is blocked. So, amount of cu gets elevated. This further leads to accumulation of cu at various organs like kidney, cornea, and brain causing damage. This condition includes toxicity of copper. ATP7B gene is relatively large (about 80kb, with 21 introns). It encodes a metal-transporting P-type ATPase, known as the Wilson ATPase that is responsible for moving copper across intracellular membranes, principally in hepatocytes. The symptoms involved in WD might be hepatic or neurological disorders like liver cirrhosis, liver failure, amenorrhoea, ovarian dysfunction, dysarthria, and choreoathtosis. Clinical manifestations of WD include neurological symptoms such as dystonia, tromor, dysarthria, psychological disturbances. It also includes hepatic diseases like liver disease/ cirrhosis. Early recognition by means of clinical, biochemical or genetic examination is very important inorder to prevent the progression of WD. So, early diagnosis requires a high index of suspicion. D-penicillamine, Vit c, Zinc, trientine, liver transplantation is used to treat Wilson disease. The purpose of present review is to summarize pathophysiology, clinical manifestations, diagnosis and treatment of Wilson disease.

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Author(s): S. Ramya Silpa, Chidvila .V


ATP7B gene, copper, diagnosis, treatment, wilson disease, Wilson’s Disease

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