Abstract

CLARK FEOKTISTOVA, Yulia. Wilson’s disease. Theme update. Rev.Med.Electrón. [online]. 2016, vol.38, n.1, pp. 57-66. ISSN 1684-1824.

Wilson’s disease is a world health problem. It is a hereditary disease that could cause irreversible lesions in the liver and brain and lead to patient’s death if it is not adequately treated. In this paper its presents a comprehensive literature review was consulted different databases network in Infomed as:  LILACS, Hinari, Scielo, Medline/ PubMed and search engine such as Google. More than 60% correspond to the last 5 years. The prevalence of Wilson’s disease is 1:35000. The clinical diagnosis is achieved using several biochemical tests. The molecular causes that provoking this disease are the mutations in the atp7b gene, and there have been informed more than 500. The difficulty of the clinical and molecular diagnosis was explained in this work.

Keywords : Wilson disease; atp7b gene; clinical diagnosis; molecular diagnostic; mutation.

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