肝移植治疗肝豆状核变性的研究进展

Research progress of liver transplantation in the treatment of hepatolenticular degeneration

肝豆状核变性是一种常染色体隐性遗传病,临床表现呈现多样化、复杂化和非特异性,误诊率高,病程进展迅速,药物治疗效果不佳,死亡率极高,是临床上少见的几种可以通过肝移植等手段治愈的遗传代谢性疾病之一。肝移植供肝提供健康的P型ATP酶,能纠正其遗传缺陷,改善铜代谢障碍,缓解临床症状,提升生活质量,提高患者的生存率,肝移植作为治疗肝豆状核变性的重要手段发挥着越来越重要的作用。随着部分活体肝移植、辅助性肝移植、多米诺辅助肝移植和交叉辅助多米诺肝移植等技术的迅猛发展,为肝豆状核变性患者提供了一种新途径,缓解了供肝短缺的难题,缩短受者的等待时间,具有一定的临床价值和发展前景。本文结合国内外相关文献资料,对肝豆状核变性的肝移植治疗研究进展作一综述。

Hepatolenticular degeneration is kind of an autosomal recessive genetic disease with diverse,complex and non-specific clinical manifestations,high misdiagnosis rate,rapid disease progression,poor drug treatment effect,and high mortality.It is one of the rare several genetic metabolic diseases in clinic that could be cured by liver transplantation method.Liver transplantation provides healthy P-type ATP enzyme through the donor liver,which can correct its genetic defects,improve copper metabolism disorders,relieve clinical symptoms,improve the quality of life,and improve the survival rate of patients.Liver transplantation is playing an increasingly important role as an important means to treat hepatolenticular degeneration.With the rapid development of partial living donor liver transplantation,auxiliary liver transplantation,domino-assisted liver transplantation and cross-assisted domino liver transplantation,a new way has been provided for patients with hepatolenticular degeneration,alleviating the problem of donor liver shortage and shortening the waiting time of recipients,which has certain clinical value and development prospects.In this paper,a review of the research progress in the treatment of hepatolenticular degeneration with liver transplantation was made with reference to the relevant literature at home and abroad.