Morbus Wilson

Abstract

Wilson disease is an autosomal recessive inherited disorder of human copper metabolism that leads to neurological symptoms and hepatic damage of variable degree. The affected gene ATP7B encodes a hepatic copper transport protein, which plays a key role in human copper metabolism. Clinical symptoms are complex with neurologic symptoms such as tremor, dysarthria, psychiatric disorders etc., predominant hepatic disease or mixed forms. Copper deposition in the liver results in acute liver failure, chronic hepatitis or liver cirrhosis. Early recognition by means of clinical, biochemical or genetic examination and early initiation of therapy with chelators or zinc-salts are essential for outcome and prognosis. Liver transplantation is an alternative in cases with acute and chronic liver failure and cures the hepatic disease. Frequent monitoring of drug therapy, adverse effects, and compliance is critical for the prognosis of the disease.

Hepatic copper-transporting ATPase ATP7B: function and inactivation at the molecular and cellular level

“…Consequences of ATP7B inactivation in Atp7b -/-mice Inactivation of ATP7B is associated with significant copper overload and severe and diverse abnormalities in the liver function [18,63,64]. In addition, the delivery of copper to the secretory pathway is disrupted resulting in production of inactive apo-cerulopasmin [15,16,58].…”

Morbus Wilson

“…Die genetische Untersuchung gewinnt zunehmend an Bedeutung, dies trifft insbesondere für Diagnosestellung in unklaren Situationen und für die Identifikation betroffener Angehöriger zu. Sie umfasst Haplotypanalysen, den direkten Mutationsnachweis durch Sequenzierung oder, im Falle bekannter Mutationen, eine limitierte Sequenzierung nach vorheriger Amplifikation einer bestimmten Genregion (9,24). Eine pränatale Diagnostik ist möglich, jedoch aufgrund einer möglichen frühzeitigen Diagnosestellung durch andere Verfahren von eingeschränktem Nutzen (25).…”

Interaction of prion protein with divalent metals: possible role in neuroprotection and neurodegeneration in prion disease model

“…In the opposite spectrum is Wilson's disease, in which there is an impairment of biliary copper excretion from the body (Ala et al 2007;Ferenci 2005;Gunther et al 2007;Herron 1976;Huster et al 2005;Yarze et al 1992). Wilson's disease is an autosomal recessive disorder caused by a similar P-type ATPase pump (ATP7B) found primarily in the liver (Bowcock et al 1994;Cuthbert 1995;Kovacevic and Zekan 2003;Scheffer et al 1992).…”