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Pathophysiology and clinical features of Wilson disease.
Metab Brain Dis. 2004 Dec; 19(3-4):229-39.MB

Abstract

Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. ATP7B is the gene product of the Wilson disease gene located on chromosome 13 and resides in hepatocytes in the trans-Golgi network, transporting copper into the secretory pathway for incorporation into apoceruloplasmin and excretion into the bile. Mutations of the gene result in impaired trafficking of copper in and through the hepatocytes. More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia). Wilson disease may present under a variety of clinical conditions, commonly as liver and/or neuropsychiatric disease. The pathogenesis of hepatic and neurologic Wilson disease is a direct consequence of copper accumulation. Presence of copper causes oxidative stress resulting in cell destruction. 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. Initial treatment for symptomatic patients should include a chelating agent (penicillamine or trientine). Treatment of presymptomatic patients or maintenance therapy can also be accomplished with zinc.

Authors+Show Affiliations

Department of Internal Medicine IV, Gastroenterology and Hepatology, Medical University of Vienna, Währinger Gürtel 18-20, A 1090 Vienna, Austria. peter.ferenci@meduniwien.ac.at

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15554419

Citation

Ferenci, Peter. "Pathophysiology and Clinical Features of Wilson Disease." Metabolic Brain Disease, vol. 19, no. 3-4, 2004, pp. 229-39.
Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis. 2004;19(3-4):229-39.
Ferenci, P. (2004). Pathophysiology and clinical features of Wilson disease. Metabolic Brain Disease, 19(3-4), 229-39.
Ferenci P. Pathophysiology and Clinical Features of Wilson Disease. Metab Brain Dis. 2004;19(3-4):229-39. PubMed PMID: 15554419.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pathophysiology and clinical features of Wilson disease. A1 - Ferenci,Peter, PY - 2004/11/24/pubmed PY - 2005/2/12/medline PY - 2004/11/24/entrez SP - 229 EP - 39 JF - Metabolic brain disease JO - Metab Brain Dis VL - 19 IS - 3-4 N2 - Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. ATP7B is the gene product of the Wilson disease gene located on chromosome 13 and resides in hepatocytes in the trans-Golgi network, transporting copper into the secretory pathway for incorporation into apoceruloplasmin and excretion into the bile. Mutations of the gene result in impaired trafficking of copper in and through the hepatocytes. More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia). Wilson disease may present under a variety of clinical conditions, commonly as liver and/or neuropsychiatric disease. The pathogenesis of hepatic and neurologic Wilson disease is a direct consequence of copper accumulation. Presence of copper causes oxidative stress resulting in cell destruction. 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. Initial treatment for symptomatic patients should include a chelating agent (penicillamine or trientine). Treatment of presymptomatic patients or maintenance therapy can also be accomplished with zinc. SN - 0885-7490 UR - https://www.unboundmedicine.com/medline/citation/15554419/Pathophysiology_and_clinical_features_of_Wilson_disease_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=15554419.ui DB - PRIME DP - Unbound Medicine ER -