Wilson's disease

@article{Ala2007WilsonsD,
  title={Wilson's disease},
  author={Aftab Ala and Ann P Walker and Keyoumars Ashkan and James S. Dooley and Michael L. Schilsky},
  journal={The Lancet},
  year={2007},
  volume={369},
  pages={397-408}
}
Progressive hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism. Knowledge of the clinical presentations and treatment of the disease are important both to the generalist and to specialists in gastroenterology and hepatology, neurology, psychiatry, and paediatrics. Wilson's disease invariably results in severe disability and death if untreated. The diagnosis is easily overlooked but if discovered early, effective treatments are available that will… 
Wilson's disease
TLDR
Knowledge of the Wilson's disease gene has opened up a new molecular diagnostic repertoire in the investigation of a suspected patient and first-degree relatives.
Insights into the management of Wilson’s disease
TLDR
An overview of various aspects of Wilson’s disease including molecular basis of the disease, clinical features, diagnostic and management strategies with their current limitations are provided.
Wilson’s Disease: Neurological Aspects, Clinical Manifestations, and Treatment Considerations
Wilson’s disease (WD) or hepatolenticular degeneration is an autosomal recessive genetic disorder caused by mutations in the ATP7B gene which leads to accumulation of copper primarily in the liver
Wilson’s disease
TLDR
Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis and Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure.
The Treatment of Wilson's Disease, a Rare Genetic Disorder of Copper Metabolism
TLDR
Five drugs are currently available to treat Wilson's disease: British Anti-Lewisite; D-penicillamine; trientine; zinc sulfate or acetate; zinc chloride; and ammonium tetrathiomolybdate, which can reduce copper levels and/or transform copper into a metabolically inert and unavailable form in the patient.
Disorders in Hepatic Copper Secretion: Wilson's Disease and Pleomorphic Syndromes.
TLDR
The authors discuss the new association of cuprotoxicosis with pleomorphic syndromes, of which MEDNIK is the first example, produced by genetic variations that disrupt the universal mechanisms of protein transport and thus perturb the traffic of Atp7b linked to Cu excretion.
Late-Onset Wilson's Disease
TLDR
A 67-year-old female in whom Wilson's disease manifested as tremors of the upper extremities and chin that were originally assessed as part of cerebral atherosclerosis and Parkinson's disease is presented.
Clinical Manifestations with Different Treatment Protocols for Iraqi Patients with Wilson’s Disease
TLDR
The key features of Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser–Fleischer rings, and acute episodes of hemolysis, often in association with acute liver failure.
The Link between Copper and Wilson's Disease
Wilson's disease (hepatolenticular degeneration) is a rare inherited autosomal recessive disorder of copper metabolism leading to copper accumulation in the liver and extrahepatic organs such as the
Challenges and suggestions for precise diagnosis and treatment of Wilson’s disease
  • Yi Dong, Zhi-ying Wu
  • Medicine
    World Journal of Pediatrics
  • 2021
TLDR
The difficulties and challenges in the clinical diagnosis and treatment of Wilson’s disease are summarized for the benefit of improving the level of diagnosis andreatment of WD.
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References

SHOWING 1-10 OF 417 REFERENCES
Wilson's Disease: Clinical, Genetic and Pharmacological Findings
TLDR
The most appropriate therapy, including OLT, remains controversial in WD and further studies are needed especially in order to differentiate the possibility of specific therapies for different WD phenotypes.
Review article: diagnosis and current therapy of Wilson's disease.
  • P. Ferenci
  • Medicine
    Alimentary pharmacology & therapeutics
  • 2004
TLDR
Wilson's disease is an autosomal recessive inherited disorder of hepatic copper metabolism resulting in liver disease and/or neuropsychiatric disease, and a group of international experts has proposed a score based on a variety of tests and clinical symptoms.
Wilson disease: New insights into pathogenesis, diagnosis, and future therapy
  • M. Schilsky
  • Medicine
    Current gastroenterology reports
  • 2005
TLDR
Wilson disease is caused by disease-specific mutations of the copper transporting ATPase, ATP7B, and can be treated effectively with chelating agents or zinc salts, or with liver transplantation.
Wilson's disease (hepatolenticular degeneration). Treatment with penicillamine and changes in hepatic trapping of radioactive copper.
TLDR
Twenty-eight patients with Wilson's disease who have been treated with penicillamine and a low-copper diet were studied and radioactive copper studies showed a slow increase in uptake by livers of symptomatic patients under long-term treatment.
3 Wilson disease
TLDR
Molecular analysis can provide a definitive diagnosis for asymptomatic sibs in Wilson disease, a recessively inherited disorder of copper transport due to a variety of abnormalities in a copper-transporting membrane ATPase.
Late onset Wilson's disease: Therapeutic implications
The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84‐year‐old woman
Wilson's disease.
  • P. Ferenci
  • Medicine
    Italian journal of gastroenterology and hepatology
  • 1999
TLDR
Lifelong treatment with chelating agents (d-penicillamine, trientine or with zinc is usually sufficient to stabilize the patient and to achieve clinical remission in most, and molecular genetic testing is now the standard for testing asymptomatic siblings.
Neurologically Presenting Wilson’s Disease
TLDR
A new drug, tetrathiomolybdate, given for 8–16 weeks, in combination with zinc, is the first choice for treating patients with Wilson’s disease, and in the absence of availability of tetradesyllabdate, zinc or trientine are the next best choices.
HEPATOLENTICULAR DEGENERATION (WILSON'S DISEASE). TWO DIFFERENT COMPONENTS.
WILSON'S disease has for a long time been of particular interest to the neurologist because it exemplifies a specific metabolic disorder involving some special relation between hepatic cirrhosis and
Depression in Hepatolenticular Degeneration (Wikon's Disease)
  • G. Walter, B. Lyndon
  • Psychology, Medicine
    The Australian and New Zealand journal of psychiatry
  • 1997
TLDR
Although hepatolenticular degeneration is rare, it commonly presents with psychiatric symptoms and it is important for psychiatrists to be aware of the condition and its psychiatric manifestations.
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