肝豆状核变性的分子诊断与治疗

Molecular diagnosis and therapy of hepatolenticular degeneration

肝豆状核变性(hepatolenticular degeneration,HLD)又称Wilson病(Wilson's disease,WD),是一种常染色体隐性遗传铜代谢障碍性疾病,位于13q14.3的ATP7B基因是其致病基因。WD是少数可以治疗的神经遗传病之一,患者如果能在发病早期或症状前期得到及时诊治,大多预后良好,反之病情逐渐加重甚至危及生命。早期诊断尤其是对有先证者的家系成员进行症状前期诊断对WD患者的预后至关重要。在判断临床表现和实验室检查结果不典型的WD疑诊患者或有WD先证者的家系成员是否患病抑或是杂合子时,基因诊断有着十分重要的价值。随着WD基因的克隆以及基因诊断的应用和普及,基因诊断在WD的临床诊断中愈益受到重视,与之相关的基因治疗研究也方兴未艾。本文将近年来WD分子诊断和治疗的研究进展综述如下,以期对WD患者的临床诊疗有所裨益。

Hepatolenticular degeneration（HLD）,also called Wilson＇s disease（WD）,is an autosomal recessively recessive disorder of copper metabolism. and its causative gene,the ATP7B gene is a causative gene located at 13q14.3. Most WD patients have a good prognosis if the patients can be diagnosed and treated in the early stage. Otherwise,the condition aggravates gradually or the patients have life-threatening complications. Early and presymptomatic diagnosis is crucial for improving the prognosis of WD patients,especially for family members of WD probands. To distinguish the victims or heterozygotes of WD,genetic diagnosis is essential for a WD suspected patient with clinical manifestations and laboratory findings that are not typical or family members with WD probands. With the WD gene cloning and the application and popularization of gene diagnosis,gene diagnosis has gained more and more attention in the clinical diagnosis of WD,and related gene therapy research is also in the ascendant. In this article, the research progress of WD molecular diagnosis and treatment in recent years will be summarized,with a view to benefiting the clinical diagnosis and treatment of WD patients.