威尔逊氏病

Wilson's disease.

作者信息

Sternlieb I

机构信息

Department of Medicine, Albert Einstein College of Medicine, Yeshiva University, Bronx, New York, USA.

出版信息

Clin Liver Dis. 2000 Feb;4(1):229-39, viii-ix. doi: 10.1016/s1089-3261(05)70105-7.

DOI:10.1016/s1089-3261(05)70105-7

PMID:11232186

Abstract

During the last 90 years, Wilson's hepatolenticular degeneration has evolved from a disease presenting insurmountable challenges to the clinician's diagnostic acumen to a metabolic disorder which is diagnosable woth certainty, treatable successfully, and even preventable. It may be long before the genetic defect becomes amenable to correction and a cure of the disease becomes possible.

摘要

在过去的90年里，威尔逊氏肝豆状核变性已从一种给临床医生的诊断能力带来难以克服挑战的疾病，演变成一种可以明确诊断、成功治疗甚至可预防的代谢紊乱疾病。在基因缺陷能够得到纠正且疾病得以治愈之前，可能还需要很长时间。