Diagnosis and phenotypic classification of Wilson disease 1

  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},
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… 

A review and current perspective on Wilson disease.

Pathophysiology and Clinical Features of Wilson Disease

  • P. Ferenci
  • Medicine, Biology
    Metabolic Brain Disease
  • 2004
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.

Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson’s disease

The clinical/laboratory findings and genetic analysis of 10 members of a large Lebanese family with Wilson’s disease, which includes a highly consanguineous family of 50 members, showed that all affected patients in the U-family were simultaneously homozygous for one missense mutation and for four single nucleotide polymorphisms in exons.

Wilson's disease: Revisiting an old friend

An overview of Wilson's disease is offered, focusing on the importance of clinical suspicion, the correct diagnosis, and treatment, which are able to change the natural history of the disease, increasing the survival of patients.

Wilson’s disease

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 Disease

Copper pathologically accumulates primarily within the liver and subsequently in the neurologic system and many other organs and tissues, and survival of transgenic mice with a mutant SOD1 which fails to incorporate Cu(2+) in its active site was improved by copper depletion.

ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.

A difficult-to-diagnose, 9-year girl of consanguineous parents, with chronic liver disease and portal hypertension is presented and diagnosis is based upon a series of tests best interpreted using Wilson disease diagnostic index (WDDI).

[Diagnosis and treatment of Wilson disease in Japan].

  • N. Shimizu
  • Medicine
    Rinsho shinkeigaku = Clinical neurology
  • 2019
The key strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both copper-chelating agents, such as D-penicillamine or Trientine, and/or zinc acetate.

Wilson disease in children.




Detection of the His1069Gln Mutation in Wilson Disease by Rapid Polymerase Chain Reaction

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.

The Wilson disease gene: spectrum of mutations and their consequences

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.

Common mutations of ATP7B in Wilson disease patients from Hungary.

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.

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

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.

Molecular analysis and diagnosis in Japanese patients with Wilson’s disease

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.

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

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.

Striking variability of hepatic copper levels in fulminant hepatic failure

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.

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

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.