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Life sciences · Journal article
Gbp Proceedings Series · July 23, 2026
Raises a question worth testing. It does not answer one.
This is a narrative review that synthesizes current understanding of Wilson disease epidemiology, pathophysiology, and treatment strategies, and discusses future directions in gene therapy and newborn screening. It presents no primary clinical trial data, effect sizes, or empirical evidence to support practice change, and therefore represents a summary of existing knowledge and conceptual framework rather than new evidence.
Narrative review. Wilson disease: autosomal recessive hereditary disorder of copper metabolism caused by ATP7B gene mutations; onset age 5–35 years; three clinical subtypes (hepatic, neurological, psychiatric); global prevalence higher in Asia..
Wilson disease has markedly higher prevalence in Asia than in Europe and North America Disease primarily onsets between ages 5 and 35 Three major clinical subtypes: hepatic, neurological, and psychiatric
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This review contextualizes Wilson disease as a paradigm for rare monogenic diseases and identifies current treatment limitations (adverse reactions, irreversible neurological damage, lifelong medication) and potential future directions (gene therapy, early screening). Clinicians should recognize it as a conceptual overview, not a guide to evidence-based intervention efficacy.
This is a narrative review synthesizing existing knowledge of Wilson disease pathophysiology, epidemiology, and treatment; it does not present primary data, clinical trials, or empirical evidence to support new clinical practice.
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This review contextualizes Wilson disease as a paradigm for rare monogenic diseases and identifies current treatment limitations (adverse reactions, irreversible neurological damage, lifelong medication) and potential future directions (gene therapy, early screening). Clinicians should recognize it as a conceptual overview, not a guide to evidence-based intervention efficacy.
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Wilson disease (WD) is an autosomal recessive hereditary disorder of copper metabolism caused by mutations in the ATP7B gene on chromosome 13. This paper systematically reviews the complete research landscape of WD, covering its discovery history, pathogenic mechanisms, epidemiology, clinical subtypes, current therapeutic strategies, and future advances in personalized medicine. Epidemiological data reveal an uneven global distribution of WD, with a markedly higher prevalence in Asia than in Europe and North America. The disease primarily onsets between the ages of 5 and 35, and is clinically categorized into three major subtypes: hepatic, neurological, and psychiatric. Multi-system involvement frequently leads to missed or misdiagnosis. Loss-of-function mutations in ATP7B impair hepatic copper transport and biliary excretion, resulting in massive copper accumulation in the liver. Excess copper triggers overproduction of reactive oxygen species (ROS), which initiates lipid peroxidation, protein and nucleic acid damage, mitochondrial dysfunction, cuproptosis, inflammatory cascades, and hepatic fibrosis. Copper subsequently leaks into systemic circulation and deposits in the brain, cornea, kidneys, myocardium, and other organs, causing multi-organ lesions. Current clinical management relies on long-term copper elimination therapy, including low-copper dietary modification, copper chelators (D-penicillamine and trientine), and zinc salts. Liver transplantation is reserved for patients with end-stage liver disease. Nevertheless, conventional treatments are limited by adverse drug reactions, irreversible neurological damage, and lifelong medication requirements. Future personalized medicine strategies center on curative gene therapies such as AAV-mediated gene repair, CRISPR gene editing, and stem cell therapy. Newborn screening combining dried blood spot ATP7B peptide detection and genomic sequencing enables early diagnosis. At present, gene therapy faces multiple bottlenecks including limited vector packaging capacity, host immune rejection, diminished efficacy in pediatric patients due to liver proliferation, and off-target effects. As a classic research model for copper metabolism disorders, Wilson disease also serves as a critical paradigm for rare monogenic diseases advancing toward early screening, precise stratification, and curative gene-based individualized therapy.
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