Wilson disease

Common Name(s)

Wilson disease

Wilson disease is a genetic condition that causes a buildup of copper in the body and leads to liver, eye, and brain issues. Symptoms of Wilson disease can present anywhere between the ages of 6 to 45 years old. When Wilson disease presents in children and teenagers, liver disease is typically the first feature. Symptoms of liver disease in individuals with Wilson disease include yellowing of the skin and whites of the eyes (jaundice), decreased appetite, swelling of the lower stomach (abdomen), and feeling tired (fatigue). If Wilson disease presents in an adult, nervous system or psychiatric issues are usually the first features. Symptoms include being clumsy, shaking (tremors), and problems with speech, thinking, and walking. Wilson disease also causes a copper build up in the front of the eye (retina) called a Kayser-Fleischer ring.

Wilson disease is caused by changes (mutations) in the ATP7B gene and is inherited in an autosomal recessive manner, which means a person must have a mutation in both copies of their ATP7B gene in order to have the condition. The ATP7B gene provides the instructions for the body to make a copper transporter in the liver. When both copies of this gene are mutated, the body cannot make enough of the copper transporter, which causes the buildup of copper. There are many ways to diagnose Wilson disease, including a physical examination, blood or urine tests to measure copper levels, and imaging tests (MRI and CT scan). In some cases, the doctor may collect and examine a small piece of the liver (biopsy). Genetic testing is used to confirm the diagnosis. The goal of treatment for Wilson disease is to lower copper levels in the body. There are medications and changes to diet to help decrease a person’s copper level. In some cases, a liver transplant may be needed. If your child has been diagnosed with Wilson disease, talk with their doctor about the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

Last Updated: 10 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

http://www.wilsonsdisease.org

Last Updated: 10 Jan 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wilson disease" returned 132 free, full-text research articles on human participants. First 3 results:

Prospective pilot study of a single daily dosage of trientine for the treatment of Wilson disease.
 

Author(s): Aftab Ala, Ermal Aliu, Michael L Schilsky

Journal: Dig. Dis. Sci.. 2015 May;60(5):1433-9.

 

Wilson disease requires lifelong therapy, currently given daily in multiple divided dosages.

Last Updated: 12 May 2015

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Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
 

Author(s): Julnar Usta, Antonios Wehbeh, Khaled Rida, Omar El-Rifai, Theresa Alicia Estiphan, Tamar Majarian, Kassem Barada

Journal:

 

Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) ...

Last Updated: 13 Nov 2014

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The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
 

Author(s): Hassan Dastsooz, Seyed Mohsen Dehghani, Majid Fardaei

Journal: Arch Iran Med. 2014 Nov;17(11):755-8.

 

Wilson disease is a rare autosomal recessive disorder of copper metabolism caused by mutation in the ATP7B gene. The combination of markers (such as SNPs) on a single chromosome can be used to understand the structure of haplotype in the human genome, in which provide notable information ...

Last Updated: 4 Nov 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wilson disease" returned 6 free, full-text review articles on human participants. First 3 results:

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 

Author(s): P de Bie, P Muller, C Wijmenga, L W J Klomp

Journal: J. Med. Genet.. 2007 Nov;44(11):673-88.

 

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting ...

Last Updated: 2 Nov 2007

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[Wilson disease: an update].
 

Author(s): Jeong Kee Seo

Journal: Korean J Hepatol. 2006 Sep;12(3):333-63.

 

Wilson disease (WD) is an autosomal recessive disorder of copper transport that results in accumulation of copper primarily in the liver, the brain and the cornea. WD is the most common inherited liver disease with the prevalence of 1: 37,000 in the pediatric population in Korea. ...

Last Updated: 25 Sep 2006

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Molecular mechanism of copper transport in Wilson disease.
 

Author(s): Negah Fatemi, Bibudhendra Sarkar

Journal: Environ. Health Perspect.. 2002 Oct;110 Suppl 5():695-8.

 

Wilson disease is an autosomal recessive disorder of copper metabolism. The Wilson disease protein is a putative copper-transporting P-type ATPase, ATP7B, whose malfunction results in the toxic accumulation of copper in the liver and brain, causing the hepatic and/or neurological ...

Last Updated: 11 Nov 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients
 

Status: Recruiting

Condition Summary: Wilson Disease

 

Last Updated: 20 Jul 2015

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Last Updated: 24 Apr 2015

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Inhibitory rTMS in Dystonic Wilson Patients
 

Status: Recruiting

Condition Summary: Wilson Disease; Movement Disorders; Repetitive Transcranial Magnetic Stimulation

 

Last Updated: 1 Jun 2015

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