Wilson病基因型-表型关系、诊断、治疗及筛查研究进展

梁晨; 白丽; 郑素军

doi:10.3969/j.issn.1001-5256.2019.09.052

Wilson病基因型-表型关系、诊断、治疗及筛查研究进展

DOI: 10.3969/j.issn.1001-5256.2019.09.052

1. 首都医科大学附属北京佑安医院疑难肝病及人工肝中心
2. 肝衰竭与人工肝治疗研究北京市重点实验室

基金项目:

北京市医院管理局消化内科学科协同发展中心项目(XXZ0503);北京市医院管理局“登峰”人才培养计划基金资助项目(DFL20151601);“北京市医院管理局临床医学发展专项经费资助(ZYLX201806)；科技创新服务能力建设-高精尖学科建设项目(市级)(11920703)；十三五国家科技重大专项(2012ZX10002004-006,2017ZX10203201-005,2017ZX10201201,2017ZX10202203-006-001,2017ZX10302201-004-002)；国家重点研发计划资助(2017YFA0103000)；

详细信息

中图分类号: R575.24
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出版历程
- 收稿日期: 2019-04-12
- 出版日期: 2019-09-20

Research advances in the genotype-phenotype correlation, diagnosis, treatment, and screening of Wilson's disease

Intractable Hepatic Diseases and Artificial Liver Treatment & Training Center, Beijing YouAn Hospital, Capital Medical University

Research funding:

摘要

摘要: Wilson病(WD)是一种可治性遗传性疾病,其病变基础为ATP7B基因突变导致铜代谢紊乱,使铜大量沉积在肝脏、大脑及其他器官而致病。不同WD患者的临床表现差异很大,进行性肝病及神经系统症状是其常见特征。不同地区中ATP7B基因致病性突变位点有所不同。致力于寻找ATP7B基因型与WD临床表型之间的相关性,有助于预测WD是否发病、发病类型和严重程度,但目前研究结果尚有争议。目前,Leipzig评分被普遍推荐作为WD的诊断标准,当Leipzig评分≥4分时,即可诊断为WD。WD的治疗主要是通过各种机制来减少体内的铜超载,有效治疗方法包括药物治疗、肝移植、血浆置换等。早诊早治的WD患者预后良好,因此对先证者的直系亲属开展WD筛查具有十分重要的意义。
- 肝豆状核变性 /
- 突变 /
- 表型 /
- 诊断 /
- 治疗学
Abstract: Wilson's disease ( WD) is a treatable hereditary disease, and its pathological basis is the deposition of a large amount of copper in the liver, the brain, and other organs due to copper metabolic disorder caused by ATP7 B gene mutation. The clinical manifestation of WD varies greatly among patients, and common features of this disease include progressive liver disease and neurological symptoms. Different mutation sites of the ATP7 B gene are observed in different regions. Correlation between ATP7 B genotype and clinical manifestation of WD can help to predict the onset, type, and severity of WD, but there are still controversies over the current research findings. At present, Leipzig score is widely accepted as the diagnostic criteria for WD, and a patient can be diagnosed with WD when Leipzig score is greater than or equal to 4. The treatment of WD aims to reduce copper overload by different mechanisms, and effective treatment methods include drug therapy, liver transplantation, and plasma exchange. Patients with early diagnosis and treatment tend to have good prognosis, and therefore, it is of great significance to carry out WD screening among the direct relatives of WD proband.
- hepatolenticular degeneration /
- mutation /
- phenotype /
- diagnosis /
- therapeutics

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参考文献(37)

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