Wilson's Disease: An Overview of the Disease and an Approach for the Primary Care Physician
Main Article Content
Abstract
Wilson's disease (WD) is a copper metabolism disorder that is inherited in an autosomal recessive manner, which produces a toxic accumulation of copper mainly in the liver and brain, in general it has two forms of presentation, hepatic which is it is more prevalent at early ages and the neurological one that occurs at later ages. Although WD is not a common disease, it should be suspected in all chronic liver disease of undetermined etiology with negative viral markers and autoimmunity, either with or without neurological manifestations, as soon as possible and thus start treatment with copper chelators, which mainly leads to to a substantial improvement in the prognosis of these patients.
Article Details
This work is licensed under a Creative Commons Attribution 4.0 International License.
References
I. Sarkar B. Copper transport and its defect in Wilson's disease: Characterization of the copper binding domain of Wilson disease AT Pase. J Inorg Biochem 2000; 79:187-91.
II. Cuthbert JA. Wilson's disease: Update of a systemic disorder with protean manifestations. Gastroenterol Clin North Am 1998; 27:655-81.
III. Borigin J, Payne AS, Deng J. A novel pineal night specific ATPase encoded by the Wilson disease gene. J Neurosci 1999; 19:1018-26.
IV. Walshe JM, Vinken PJ, Bruyn GW, Klawans HL. Wilson's disease. In: Handbook of Clinical Neurology. Vol. 49. Amsterdam: Elsevier;1986. p. 223-38.
V. Riordan SM, Williams R. The Wilson's disease gene and phenotypic diversity. J Hepatol 2001; 34:165-71.
VI. Ferenci P, Caca K, Loudianos. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23: 139-42.
VII. Xuan A, Bookman I, Cox DW, Heathcote J. Three atypical cases of Wilson disease: Assessment of the Leipzig scoring system in making a diagnosis. J Hepatol 2007; 47:428-33.
VIII. Roberts EA, Schilsky ML. American Association for Study of Liver D. Diagnosis and treatment of Wilson disease: An update. Hepatology 2008; 47:2089-111.
IX. Ostapowicz G, Fontana RJ, Schiodt FV. Results of a prospective study of acute liver failure at 17 tertiary care centers in the United States. Ann Intern Med 2002; 137:947-54.
X. O'Brien A, Williams R. Rapid diagnosis of Wilson disease in acute liver failure: no more waiting for the ceruloplasmin level. Hepatology 2008; 48:1030-2
XI. Dhawan A, Taylor RM, Cheeseman P, Desilva P, Katsiyiannakis L, Mieli VG. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl 2005; 11:441-8.
XII. Petrasek J, Jirsa M, Sperl J, Kozak L, Taimr P, Spicak J, et al. Revised King's College score for liver transplantation in adult patients with Wilson's disease. Liver Transpl 2007; 13:55-61.
XIII. Arun B, Taly S, Meenakshi--Sundaram, Sanjib S, Swamy HS, Arunodaya GR. Wilson Disease: Description of 282 patients evaluated over 3 decades. Medicine 2007;82.112-21.
XIV. Schoen RE, Sternlieb I. Clinical aspects of Wilson's disease. Am J Gastroenterol 1990; 85:1453-7.
XV. Caca K, Ferenci P, Kuhn HJ, Polli C, Willgerodt H, Kunath, B. High prevalence of the H1069Q mutation in East German patients with Wilson disease: Rapid detection of mutations by limited sequencing and phenotype-genotype analysis. J. Hepatol 2001; 35:575-81.
XVI. Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, et al. Wilson's disease: Cranial MRI observations and clinical correlation. Neuroradiology 2006; 48:613-21.
XVII. Dastur DK, Manghani DK, Wadia NH. Wilson's disease in India. I. Geographic, genetic and clinical aspects in 16 families. Neurology 1968; 18:21-31.