Wilson's disease: an update

@article{Das2006WilsonsDA,
  title={Wilson's disease: an update},
  author={Shyamal K. Das and Kunal Ray},
  journal={Nature Clinical Practice Neurology},
  year={2006},
  volume={2},
  pages={482-493}
}
Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in the liver and brain. Diagnosis of the condition depends primarily on clinical features, biochemical parameters and the presence of the Kayser–Fleischer ring, and a new diagnostic scoring system has recently been proposed. Mutations in ATP7B can… 

[Wilson disease].

Liver transplantation is indicated in cases with fulminant hepatitis, end-stage liver cirrhosis and should be considered in the therapy resistant neurological forms and a regular follow-up with monitoring of adverse effects of treatment and compliance is essential.

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.

Wilson's disease.

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

Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism

It seems to be of importance to evaluate if WDHzc are predisposed to any abnormalities in Cu metabolism and, if so, whether these abnormalities are related to any symptomatic manifestations.

ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency

A 12-year-old female patient that was initially presented with unusual skin darkening and low serum level of adrenocorticotropic hormone and diagnosed as having Adrenocortical insufficiency is reported, and molecular genetic analysis and laboratory examination definitely confirmed the patient’s condition as WD.

Wilson's Disease: A Brief Review with Neuroimaging Features

Wilson disease is a metabolic disease resulting from defective copper metabolism leading to deposition of copper in liver, brain and eyes, which presents in form of hepatitis, fulminant hepatic failure, cirrhosis, dysarthria, dystonia, spasticity, seizures, behavioral changes, psychosis, hemolytic anemia, thrombocytopenia, renal tubular defect, congestive cardiac failure.

Rapid and reliable diagnosis of Wilson disease using Xray fluorescence

This study established a definite diagnosis of Wilson’s disease based on XRF, a rapid and versatile method that can be easily implemented in a clinical setting.

Copper metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment

This review discusses genetic disorders involving altered copper metabolism, particularly in relation to Menkes disease, occipital horn syndrome, and Wilson’s disease, and an understanding of the relation between WD and hepatocellular carcinoma will provide clues to help prevent hepato Cell carcinoma in patients with WD.

Familial screening of children with Wilson disease

The range of familial screening of children with Wilson disease and the appropriate screening methods were investigated and 2 pathological mutations showed in all patients with WD and 1 pathological mutation in all WDHzc were found.
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Chapter 31 – Wilson Disease

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The Wilson disease gene ATP7B encodes a P‐type ATPase, an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea.

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Findings from recent findings provide information on the molecular pathogenesis of Wilson disease, as well as the biological mechanisms of copper homeostasis.

Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients

A potential role for yet unidentified modifying loci for the observed phenotypic heterogeneity among the WD patients is suggested, suggesting significant disparity in terms of organ involvement and severity of the disease.

The Wilson disease gene: spectrum of mutations and their consequences

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The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease.

The ApoE genotype was established as an important factor delaying the onset of neurological and hepatic symptoms, but not modifying phenotypic disease expression in a homogeneous group of patients with Wilson's disease.

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It is concluded that zinc acetate is a fully effective and non-toxic therapy for the prophylactic treatment of the presymptomatic Wilson's disease patient.

Treatment of Wilson's disease with zinc. XVII: Treatment during pregnancy

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The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.
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