Pfeiffer Ronald F
Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Handb Clin Neurol. 2011;100:681-709. doi: 10.1016/B978-0-444-52014-2.00049-5.
In the almost 100 years since Wilson's description of the illness that now bears his name, tremendous advances have been made in our understanding of this disorder. The genetic basis for Wilson's disease - mutation within the ATP7B gene - has been identified. The pathophysiologic basis for the damage resulting from the inability to excrete copper via the biliary system with its consequent gradual accumulation, first in the liver and ultimately in the brain and other organs and tissues, is now known. This has led to the development of effective diagnostic and treatment modalities that, although they may not eliminate the disorder, do provide the means for efficient diagnosis and effective amelioration if carried out in a dedicated and persistent fashion. Nevertheless, Wilson's disease remains both a diagnostic and treatment challenge for physician and patient. Its protean clinical manifestations make diagnosis difficult. Appropriate diagnostic evaluations to confirm the diagnosis and institute treatment can be confusing. In this chapter, the clinical manifestations, diagnostic evaluation, and treatment approaches for Wilson's disease are discussed.
自威尔逊描述了如今以他名字命名的疾病以来的近100年里，我们对这种疾病的认识取得了巨大进展。威尔逊病的遗传基础——ATP7B基因突变——已被确定。因无法通过胆道系统排泄铜，导致铜逐渐蓄积，首先在肝脏，最终在大脑及其他器官和组织，由此造成损害的病理生理基础现已明确。这促使了有效的诊断和治疗方法的发展，尽管这些方法可能无法消除该疾病，但如果以专注且持续的方式实施，确实能提供有效诊断和有效改善病情的手段。然而，威尔逊病对医生和患者而言仍然是诊断和治疗方面的挑战。其多样的临床表现使得诊断困难。用于确诊和开展治疗的恰当诊断评估可能令人困惑。在本章中，将讨论威尔逊病的临床表现、诊断评估及治疗方法。
