ArticleCurrent neuropharmacology2021
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.
Article in Current neuropharmacology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Liver transplantation as a treatment for Wilson's disease with neurological presentation: a systematic literature review.Acta neurologica Belgica · 2022Pooled it
- A Comprehensive and Critical Evaluation of Autonomic Nervous System Impairment in Patients with Wilson Disease: A Cross-Sectional Study.Brain and behavior · 2026Article
- The pathogenesis of liver fibrosis in Wilson's disease: hepatocyte injury and regulation mediated by copper metabolism dysregulation.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Role of Copper Homeostasis and Cuproptosis in Cardiovascular Disease: Molecular Insights and Metabolic Perspectives.International journal of biological sciences · 2026Review
- Glutathione Attenuates Copper Levels and Alleviates Hepatic Injury in TX Mice.Biological trace element research · 2025Article
- Chinese Multidisciplinary Expert Consensus on Orphan/Anticopper Drugs and Other Non-drug Management of Hepatolenticular Degeneration.Current neuropharmacology · 2025Review
- Use of Basket Trials to Solve Sleep Problems in Patients with Rare Diseases.Clocks & sleep · 2024Article
- Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.Human genome variation · 2024Article
- Article
- Review
- Wilson's Disease with Acute Hepatic Onset: How to Diagnose and Treat It.Children (Basel, Switzerland) · 2024Review
- Network pharmacology-based approach to understand the effect and mechanism of chrysophanol against cognitive impairment in Wilson disease.Metabolic brain disease · 2024Article
- "Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US.Orphanet journal of rare diseases · 2023Article
- Neurological Wilson's Disease Signs-Hepatic Encephalopathy or Copper Toxicosis?Diagnostics (Basel, Switzerland) · 2023Review
- A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure.ACG case reports journal · 2023Article
- Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report.Frontiers in pediatrics · 2023Article
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
- Nomogram-based prediction of portal vein system thrombosis formation after splenectomy in patients with hepatolenticular degeneration.Frontiers in medicine · 2023Article
- Role of gender and age in features of Wilson's disease.Frontiers in neurology · 2023Article
- Mitochondrial copper in human genetic disorders.Trends in endocrinology and metabolism: TEM · 2023Review
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
Wilson's disease (WD) is an inherited disease caused by mutations in ATP7B and is characterized by the pathological accumulation of copper in the liver and brain. Common clinical manifestations of WD include a wide range of liver disease and neurological symptoms. In some patients, psychiatric symptoms may be the only manifestation at the time of diagnosis. The clinical features of WD are highly variable and can mimic any disease of internal medicine. Therefore, for unexplained medical diseases, the possibility of WD should not be ignored. Early diagnosis and treatment can improve the prognosis of WD patients and reduce disability and early death. Gene sequencing is becoming a valuable method to diagnose WD, and if possible, all WD patients and their siblings should be genetically sequenced. Copper chelators including D-penicillamine, trientine, and dimercaptosuccinic acid can significantly improve the liver injury and symptoms of WD patients but may have a limited effect on neurological symptoms. Zinc salts may be more appropriate for the treatment of asymptomatic patients or for the maintenance treatment of symptomatic patients. High-quality clinical trials for the drug treatment of WD are still lacking, therefore, individualized treatment options for patients are recommended. Individualized treatment can be determined based on the clinical features of the WD patients, efficacy and adverse effects of the drugs, and the experience of the physician. Liver transplantation is the only effective method to save patients with acute liver failure or with severe liver disease who fail drug treatment.
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