Diagnosis and phenotypic classification of Wilson disease 1

@article{Ferenci2003DiagnosisAP,
  title={Diagnosis and phenotypic classification of Wilson disease 1},
  author={Peter Ferenci and Karel Caca and Georgios Loudianos and Georgina Mieli-Vergani and Stuart Tanner and Irmin Sternlieb and Michael L. Schilsky and Diane Wilson Cox and Frieder Berr},
  journal={Liver International},
  year={2003},
  volume={23}
}
Wilson disease is 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. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is… Expand
A review and current perspective on Wilson disease.
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Different aspects of Wilson disease are reviewed including geographical differences in presentations and clinical management and the limitations of currently available tests. Expand
Pathophysiology and Clinical Features of Wilson Disease
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The diagnosis of Wilson disease requires a combination of a variety of clinical symptoms, biochemical tests, and detection of gene mutations, which are the basis of a score proposed by a group of international experts. Expand
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A case of Wilson’s disease is reported in a 15-year-old girl presenting to us as chronic liver disease, an autosomal-recessive disorder caused by mutation in the ATP7B gene, with resultant impairment of biliary excretion of copper. Expand
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  • Medicine
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Wilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that affects about 30 individuals per million and the goal of therapy is to reduce copper accumulation either by enhancing its urinary excretion or by decreasing its intestinal absorption. Expand
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References

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Detection of the His1069Gln Mutation in Wilson Disease by Rapid Polymerase Chain Reaction
TLDR
A semi-nested, rapid polymerase chain reaction (PCR) method was developed to detect the His1069Gln mutation and used it to determine the distribution of this mutation in 83 patients with Wilson disease and family members of homozygous patients in Austria. Expand
The Wilson disease gene: spectrum of mutations and their consequences
TLDR
These findings suggest a wider spectrum of age of onset than is considered typical of Wilson disease: mutations that completely disrupt the gene can produce liver disease in early childhood when Wilson disease may not typically considered in the differential diagnosis. Expand
Common mutations of ATP7B in Wilson disease patients from Hungary.
TLDR
The H1069Q point mutation is frequent in Hungarian patients with WD and appears to have originated from a single founder in Eastern Europe, in contrast, mutations in exons 8, 13, 15, and 18 are uncommon in Hungarian WD patients. Expand
Wilson's disease in patients presenting with liver disease: a diagnostic challenge.
TLDR
The commonly used clinical and laboratory parameters are not sufficient to exclude the diagnosis of Wilson's disease in patients with liver disease of unknown origin. Expand
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
TLDR
The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease–specific mutations, provide convincing evidence that pWD is the Wilson disease gene. Expand
Molecular analysis and diagnosis in Japanese patients with Wilson’s disease
TLDR
The Wilson’s disease gene (ATP7B) has been cloned as a putative copper‐transporting P‐type ATPase gene and mutations of ATP7B in Japanese patients with Wilson's disease were analysed. Expand
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
TLDR
It appears that the mechanism of alternative splicing serves to regulate the amount of functional WD protein produced in brain, kidney, placenta, and possibly in liver. Expand
Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin.
TLDR
Although helpful for identifying presymptomatic Wilson's disease, screening by determination of serum ceruloplasmin in unselected patients with clinical or laboratory evidence of liver disease is neither feasible nor cost effective. Expand
Striking variability of hepatic copper levels in fulminant hepatic failure
TLDR
It is indicated that hepatic copper levels vary greatly in acute liver failure, and that estimates from a single biopsy specimen may be misleading as to the cause of the underlying liver disease. Expand
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
TLDR
It is shown that this sequence forms part of a P–type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy metal transporters. Expand
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