美国肝病研究协会和欧洲肝病研究协会分别于2008年和2012年发布了威尔逊病(WD)的临床实践指南。他们的重点是疾病的肝脏方面。最近,欧洲儿科胃肠病学肝病和营养学会发表了一篇关于小儿WD的立场论文.人们认为有必要协调肝脏的指导方针,儿科,以及疾病的神经系统方面,并将其与资源受限的环境联系起来。因此,来自印度国家协会的专家代表3个学科,肝病学(印度全国肝脏研究协会),儿科肝病(印度儿科胃肠病学会,肝病学和营养学),和神经学(印度运动障碍协会)聚集在一起制定新的指导方针。使用MEDLINE(PubMed)对WD的回顾性和前瞻性研究进行了文献检索。成员们对每项建议进行了表决,使用名义投票技术。推荐等级,评估,使用开发和评估系统来确定证据的质量。与诊断测试相关的问题,评分系统,并将其修改为适合资源受限设置的版本。虽然铜蓝蛋白和24小时尿铜仍然很重要,血清铜和青霉胺激发试验在诊断算法中作用不大。已经提出了一种新的评分系统-改良的莱比锡评分,对于家族史和血清铜蓝蛋白低于5mg/dl,加分。肝干铜评估和青霉胺挑战测试已从评分系统中删除。已包括神经和肝病的药理学方法以及全球监测量表的差异。建议将胆红素升高和脑病恶化作为预测肝移植需要的指标,但需要进行验证。临床实践指南为WD的全面管理提供了建议,这对所有专业都有价值。
Clinical practice
guidelines for Wilson\'s disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition. A need was felt to harmonize
guidelines for the hepatic, pediatric, and neurological aspects of the disease and contextualize them to the resource-constrained settings. Therefore, experts from national societies from India representing 3 disciplines, hepatology (Indian National Association for Study of the Liver), pediatric hepatology (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition), and neurology (Movement Disorders Society of India) got together to evolve fresh
guidelines. A literature search on retrospective and prospective studies of WD using MEDLINE (PubMed) was performed. Members voted on each recommendation, using the nominal voting technique. The Grades of Recommendation, Assessment, Development and Evaluation system was used to determine the quality of evidence. Questions related to diagnostic tests, scoring system, and its modification to a version suitable for resource-constrained settings were posed. While ceruloplasmin and 24-h urine copper continue to be important, there is little role of serum copper and penicillamine challenge test in the diagnostic algorithm. A new scoring system - Modified Leipzig score has been suggested with extra points being added for family history and serum ceruloplasmin lower than 5 mg/dl. Liver dry copper estimation and penicillamine challenge test have been removed from the scoring system. Differences in pharmacological approach to neurological and hepatic disease and global monitoring scales have been included. Rising bilirubin and worsening encephalopathy are suggested as indicators predicting need for liver transplant but need to be validated. The clinical practice
guidelines provide recommendations for a comprehensive management of WD which will be of value to all specialties.