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《2008AASLD肝豆狀核變性診治指南》內容預覽

These recommendations provide a data-supported ap-proach to the diagnosis and treatment of patients withWilson disease. They are based on the following: (1) for-mal review and analysis of the recently-published worldliterature on the topic including Medline search; (2)American College of Physicians Manual for AssessingHealth Practices and Designing Practice Guidelines1; (3)guideline policies, including the AASLD Policy on theDevelopment and Use of Practice Guidelines and theAmerican Gastroenterological Association Policy State-ment on Guidelines2; (4) the experience of the authors inthe speci?ed topic. A signi?cant problem with the litera-ture on Wilson disease is that patients are suf?ciently rareto preclude large cohort studies or randomized controlledtrials; moreover, most treatment modalities were devel-oped at a time when conventions for drug assessment wereless stringent than at present.

Intended for use by physicians, these recommenda-tions suggest preferred approaches to the diagnostic, ther-apeutic, and preventive aspects of care. They are intendedto be flexible, in contrast to standards of care, which areinflexible policies to be followed in every case. Speci?crecommendations are based on relevant published infor-mation. To characterize more fully the quality of evidencesupporting recommendations, the Practice GuidelinesCommittee of the AASLD requires a class (reflecting ben-e?t versus risk) and level (assessing strength or certainty)of evidence to be assigned and reported with each recom-mendation (Table 1, adapted from the American Collegeof Cardiology and the American Heart Association Prac-tice Guidelines3,4).

Introduction
Copper is an essential metal that is an important cofac-tor for many proteins. The average diet provides substan-tial amounts of copper, typically 2-5 mg/day; therecommended intake is 0.9 mg/day. Most dietary copperends up being excreted. Copper is absorbed by entero-cytes mainly in the duodenum and proximal small intes-tine and transported in the portal circulation inassociation with albumin and the amino acid histidine tothe liver, where it is avidly removed from the circulation.The liver utilizes some copper for metabolic needs, syn-thesizes and secretes the copper-containing protein ceru-loplasmin, and excretes excess copper into bile. Processesthat impair biliary copper excretion can lead to increasesin hepatic copper content

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