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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General Support Organizations

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How do you compare to others with this condition?

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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 149 free, full-text research articles on human participants. First 3 results:

Coagulation Parameters in Wilson Disease.
 

Author(s): Mark Schaefer, Laura Weber, Daniel Gotthardt, Jessica Seessle, Wolfgang Stremmel, Jan Pfeiffenberger, Karl Heinz Weiss

Journal: J Gastrointestin Liver Dis. 2015 Jun;24(2):183-8.

 

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. Alterations of copper metabolism have been associated with changes in coagulation factors. The aim of the present study was the analysis of coagulation factors in WD patients.

Last Updated: 26 Jun 2015

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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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Is it necessary to re-evaluate diagnostic criteria for Wilson disease in children?
 

Author(s): Oya Balcı Sezer, Peren Perk, Ferda Özbay Hoşnut, Serdar Kenan Köse, Figen Özcay

Journal: Turk J Gastroenterol. 2014 Dec;25(6):690-5.

 

The differential diagnosis of Wilson Disease (WD) is challenging, especially in children, because liver copper levels may also increase in other chronic liver diseases with bile stasis. The aim of this study is to determine urine and liver copper cut-off values to differentiate WD ...

Last Updated: 20 Jan 2015

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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 4 free, full-text review articles on human participants. First 3 results:

Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease.
 

Author(s): M Wiggelinkhuizen, M E C Tilanus, C W Bollen, R H J Houwen

Journal: Aliment. Pharmacol. Ther.. 2009 May;29(9):947-58.

 

No consensus is available on the optimal initial treatment in Wilson disease.

Last Updated: 21 Apr 2009

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 9 May 2016

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sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis
 

Status: Recruiting

Condition Summary: Wilsons Disease

 

Last Updated: 14 Mar 2016

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Efficacy and Safety Study of WTX101 in Adult Wilson Disease Patients
 

Status: Recruiting

Condition Summary: Wilson Disease

 

Last Updated: 22 Apr 2016

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