Current Gastroenterology Reports

, Volume 7, Issue 1, pp 26–31 | Cite as

Wilson disease: New insights into pathogenesis, diagnosis, and future therapy

  • Michael L. Schilsky


Wilson disease is caused by disease-specific mutations of the copper transporting ATPase, ATP7B. The diagnosis is established by clinical and biochemical means, though advances in molecular diagnostics will someday permit de novo diagnosis. The patient may present with hepatic, neurologic, or psychiatric symptoms, or a combination of these. Both environmental and extragenic effects contribute to the varied phenotypic presentations of this disease. Patients can be treated effectively with chelating agents or zinc salts, or with liver transplantation. Liver cell transplant and gene therapy offer potential cures for this disorder, but at present only data from preclinical studies on animal models are available. Future advances in immunotolerization and gene therapy will likely enable human trials for treatment of this disorder and other genetic disorders of hepatic metabolism.


Wilson Disease Copper Metabolism Menkes Disease ATP7B Gene Hepatic Copper 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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References and Recommended Reading

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Copyright information

© Current Science Inc. 2005

Authors and Affiliations

  • Michael L. Schilsky
    • 1
  1. 1.Center for Liver Disease and TransplantationThe New York Weill Cornell Medical CenterNew YorkUSA

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