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Update on Wilson disease.
Int Rev Neurobiol. 2013; 110:313-48.IR

Abstract

Wilson disease (WD) is an inherited disorder of chronic copper toxicosis characterized by excessive copper deposition in the body, primarily in the liver and the brain. It is a progressive disease and fatal if untreated. Excessive copper accumulation results from the inability of liver to excrete copper in bile. Copper is an essential trace metal and has a crucial role in many metabolic processes. Almost all of the body copper is protein bound. In WD, the slow but relentless copper accumulation overwhelms the copper chaperones (copper-binding proteins), resulting in high levels of free copper and copper-induced tissue injury. Liver is the central organ for copper metabolism, and copper is initially accumulated in the liver but over time spills to other tissues. WD has protean clinical manifestations mainly attributable to liver, brain, and osseomuscular impairment. Diagnosis of WD is challenging and based on combination of clinical features and laboratory tests. Identification of various high-frequency mutations identified in different population studies across the world has revived interest in developing DNA chips for rapid genetic diagnosis of WD. All symptomatic and all presymptomatic patients require lifelong decoppering with careful clinical tracking. Decoppering ensures that presymptomatic individuals remain symptom free. With judicious decoppering, given time, even patients with severe neurological disability improve and can return to normal life and resume school or work at par with their peers. Treatment regimens and tracking patients using the WD-specific Global Assessment Scale for WD (GAS for WD) are discussed.

Authors+Show Affiliations

Wilson Disease Clinic, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India. Electronic address: annu.aggarwal@gmail.com.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

24209444

Citation

Aggarwal, Annu, and Mohit Bhatt. "Update On Wilson Disease." International Review of Neurobiology, vol. 110, 2013, pp. 313-48.
Aggarwal A, Bhatt M. Update on Wilson disease. Int Rev Neurobiol. 2013;110:313-48.
Aggarwal, A., & Bhatt, M. (2013). Update on Wilson disease. International Review of Neurobiology, 110, 313-48. https://doi.org/10.1016/B978-0-12-410502-7.00014-4
Aggarwal A, Bhatt M. Update On Wilson Disease. Int Rev Neurobiol. 2013;110:313-48. PubMed PMID: 24209444.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Update on Wilson disease. AU - Aggarwal,Annu, AU - Bhatt,Mohit, PY - 2013/11/12/entrez PY - 2013/11/12/pubmed PY - 2014/7/30/medline KW - ATP7B gene KW - Copper KW - Decoppering KW - Global Assessment Scale for WD (GAS for WD) KW - Hepatocellular degeneration KW - Kayser–Fleischer rings KW - Penicillamine KW - Trientine KW - Wilson disease KW - Zinc SP - 313 EP - 48 JF - International review of neurobiology JO - Int. Rev. Neurobiol. VL - 110 N2 - Wilson disease (WD) is an inherited disorder of chronic copper toxicosis characterized by excessive copper deposition in the body, primarily in the liver and the brain. It is a progressive disease and fatal if untreated. Excessive copper accumulation results from the inability of liver to excrete copper in bile. Copper is an essential trace metal and has a crucial role in many metabolic processes. Almost all of the body copper is protein bound. In WD, the slow but relentless copper accumulation overwhelms the copper chaperones (copper-binding proteins), resulting in high levels of free copper and copper-induced tissue injury. Liver is the central organ for copper metabolism, and copper is initially accumulated in the liver but over time spills to other tissues. WD has protean clinical manifestations mainly attributable to liver, brain, and osseomuscular impairment. Diagnosis of WD is challenging and based on combination of clinical features and laboratory tests. Identification of various high-frequency mutations identified in different population studies across the world has revived interest in developing DNA chips for rapid genetic diagnosis of WD. All symptomatic and all presymptomatic patients require lifelong decoppering with careful clinical tracking. Decoppering ensures that presymptomatic individuals remain symptom free. With judicious decoppering, given time, even patients with severe neurological disability improve and can return to normal life and resume school or work at par with their peers. Treatment regimens and tracking patients using the WD-specific Global Assessment Scale for WD (GAS for WD) are discussed. SN - 2162-5514 UR - https://www.unboundmedicine.com/medline/citation/24209444/Update_on_Wilson_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/B978-0-12-410502-7.00014-4 DB - PRIME DP - Unbound Medicine ER -
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