《2012EASL临床实践指南：Wilson’s病》内容预览

This Clinical Practice Guideline (CPG) has been developed toassist physicians and other healthcare providers in the diagnosisand management of patients with Wilson’s disease. The goal is todescribe a number of generally accepted approaches for diagno-sis, prevention, and treatment of Wilson’s disease. Recommenda-tions are based on a systematic literature review in the Medline(PubMed version), Embase (Dialog version), and the CochraneLibrary databases using entries from 1966 to 2011. The Gradesof Recommendation, Assessment, Development, and Evaluation(GRADE) system used in other EASL CPGs was used and setagainst the somewhat different grading system used in theAASLD guidelines (Table 1A and B). Unfortunately, there is nota single randomized controlled trial conducted in Wilson’s dis-ease which has an optimal design. Thus, it is impossible to assigna high or even a moderate quality of evidence to any of the ques-tions dealt with in these guidelines. The evaluation is mostlybased on large case series which have been reported within thelast decades.ó 2011 European Association for the Study of the Liver. Publishedby Elsevier B.V. All rights reserved.
Introduction
Normal dietary consumption and absorption of copper exceedthe metabolic need, and homeostasis of this element is main-tained exclusively by the biliary excretion of copper. Wilson’s dis-ease is an inherited disorder in which defective biliary excretionof copper leads to its accumulation, particularly in liver and brain[1,2]. Wilson’s disease is due to mutations of the ATP7B gene onchromosome 13 [3,4], which encodes a copper-transportingP-type ATPase (ATP7B) residing in the trans-Golgi network ofhepatocytes. ATP7B is responsible for transporting copper fromintracellular chaperone proteins into the secretory pathway, bothfor excretion into bile and for incorporation into apo-ceruloplas-min for the synthesis of functional ceruloplasmin [3,4]. Thedevelopment of Wilson’s disease is due to the accumulation ofcopper in affected tissues.
Clinical presentation can vary widely, but the key features ofWilson’s disease are liver disease and cirrhosis, neuropsychiatricdisturbances, Kayser–Fleischer rings in Des?emet’s membrane ofthe cornea, and acute episodes of hemolysis often in associationwith acute liver failure. Wilson’s disease is not just a disease ofchildren and young **s, but may present at any age [5].Wilson’s disease is a genetic disorder that is found worldwide.
Wilson’s disease is recognized to be more common than previ-ously thought, with a gene frequency of 1 in 90–150 and an inci-dence (based on **s presenting with neurologic symptoms[6]) that may be as high as 1 in 30,000 [7]. More than 500 distinctmutations have been described in the Wilson gene, from which380 have a con?rmed role in the pathogenesis of the disease

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