Wilson disease: current status and the future

Area of Science:

• Genetics and Metabolism
• Hepatology

Background:

• Wilson disease is an inherited autosomal recessive disorder affecting copper metabolism.
• Accumulation of copper in organs like the liver and brain leads to toxicity.

Purpose of the Study:

• To review the current status and recent advances in the diagnosis and treatment of Wilson disease.
• To explore emerging diagnostic tools and future therapeutic strategies.

Main Methods:

• Review of current literature on Wilson disease diagnosis and treatment.
• Discussion of molecular diagnostics, biochemical tests, and clinical findings.
• Exploration of established and experimental therapies, including chelating agents, zinc, liver transplantation, hepatocyte transplantation, and gene therapy.

Main Results:

• Molecular diagnostics complement existing biochemical and clinical screening methods for Wilson disease.
• Screening newborns for Wilson disease is feasible but not widely implemented.
• Standard biochemical tests can identify Wilson disease in cases of acute liver failure.
• Current treatments include chelating agents, zinc salts, and liver transplantation.
• Hepatocyte transplantation and gene therapy show promise in animal models.

Conclusions:

• Advances in molecular diagnostics enhance Wilson disease detection.
• Established treatments are effective, with liver transplantation for severe cases.
• Hepatocyte and gene therapies represent promising future directions for Wilson disease treatment, pending further human studies.