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}
}

Insights into the management of Wilson’s disease

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

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.

Neurologic Wilson's disease

Despite a long history, Wilson's disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal

Wilson's disease: apropos of two clinical cases

This work reports 2 cases of Wilson’s disease with hepatic involvement, with distinct evolutions, based upon clinical, biochemical and histological findings.

Clinical considerations for an effective medical therapy in Wilson's disease

Considerations for an effective medical treatment and requirements for future studies in Wilson's disease are discussed, including standardized dosage strategies that address changes in copper pools that may reduce long‐term morbidity.

The Treatment of Wilson's Disease, a Rare Genetic Disorder of Copper Metabolism

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.

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

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.
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References

SHOWING 1-10 OF 458 REFERENCES

Wilson's Disease: Clinical, Genetic and Pharmacological Findings

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.

Diagnosis and current therapy of Wilson's disease

Wilson's disease is an autosomal recessive inherited disorder of hepatic copper metabolism resulting in liver disease and/or neuropsychiatric disease, which requires life‐long administration of copper chelators (d‐penicillamine, trientine).

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

  • M. Schilsky
  • Medicine, Biology
    Current gastroenterology reports
  • 2005
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.

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

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

Hemolytic anemia in Wilson's disease.

After this initial episode no further features suggesting hepatic involvement may appear despite neurologic abnormalities of many years' duration, and Wilson's disease is rarely considered at that time.

Neurologically Presenting Wilson’s Disease

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.

  • D. Denny-Brown
  • Medicine, Biology
    The New England journal of medicine
  • 1964
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
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