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

Clinical presentations of Wilson disease among Polish children.
 

Author(s): Magdalena Naorniakowska, Maciej Dądalski, Diana Kamińska, Wojciech Jańczyk, Dariusz Lebensztejn, Krzysztof Fyderek, Jacek Wysocki, Piotr Socha

Journal: Dev Period Med. ;20(3):216-221.

 

Wilson disease (WD) may present from early childhood up to the eighth decade, presenting with variable hepatic and neuropsychiatric symptoms. Establishing the diagnosis is straightforward if the major clinical and laboratory features are present. However, clinical phenotypes are highly ...

Last Updated: 12 Dec 2016

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In Reply: Wilson disease.
 

Author(s): Mohamad A Hanouneh, Ari Garber, Anthony S Tavill, Nizar N Zein, Ibrahim A Hanouneh

Journal: Cleve Clin J Med. 2016 06;83(6):406-7.

 

Last Updated: 10 Jun 2016

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To the Editor: Wilson disease.
 

Author(s): Aibek E Mirrakhimov, Taha Ayach, Aram Barbaryan

Journal: Cleve Clin J Med. 2016 06;83(6):406.

 

Last Updated: 10 Jun 2016

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

Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.
 

Author(s): Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen

Journal: Medicine (Baltimore). 2016 Dec;95(49):e5331.

 

Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, ...

Last Updated: 8 Dec 2016

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Trientine induced colitis during therapy for Wilson disease: a case report and review of the literature.
 

Author(s): Salih Boga, Dhanpat Jain, Michael L Schilsky

Journal:

 

Wilson disease (WD) is an autosomal recessive disorder of human copper metabolism characterized by copper accumulation in the liver due to impaired excretion of copper into the bile. Brain accumulation of copper may cause neuropsychiatric symptoms. Trientine (triethylenetetramine ...

Last Updated: 21 Nov 2015

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Wilsons Disease

 

Last Updated: 27 Oct 2016

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Last Updated: 13 Mar 2017

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WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
 

Status: Recruiting

Condition Summary: Severe Dystonia; Wilson's Disease

 

Last Updated: 30 Sep 2016

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