肝豆状核变性诊疗新进展

Advance in diagnostic and treatment of Wilson’s disease

肝豆状核变性,又称Wilson病(Wilson’s disease,WD),是一种由ATP7B基因突变引起的常染色体隐性遗传疾病。中国WD的发病率高于西方国家。WD会导致患者体内铜过度储积,主要影响肝脏和大脑的基底神经节,也会影响其他器官系统。其诊断主要通过血液、尿液、肝脏病理和基因检查等明确。基因检测还可以用来筛选患者的家庭成员。WD是少数可用药物治疗的遗传病之一,方法包括使用铜螯合剂(青霉胺、曲恩汀、二巯基丙醇、二巯丁二酸和四硫代钼酸铵等)和减少胃肠道吸收铜的药物(锌剂)。目前大多数治疗方法都是根据国外专家的经验和证据制定的,有必要研究和开发适合中国WD患者的治疗方案。

Hepatolenticular degeneration or Wilson’s disease (WD) is an autosomal recessive disease caused by a mutation in ATP7B gene. The incidence of WD is higher in China than that in western countries. WD may induce an excessive copper deposition in the body, primarily affects the basal ganglia of the liver and brain, and also has an impact on other organ systems. Diagnosis involves blood tests, urine tests, liver biopsy and genetic test. Genetic test may be used to screen the family members of those affected patients. WD is one of rare drug-treatable hereditary diseases. Medical treatment for WD includes use of copper chelators (penicillamine, trientine, dimercaprol, dimercaptosuccinic acid and ammonium tetrathiomolybdate) and drugs that decrease gastrointestinal copper absorption (zinc). However, the majority of treatments are formulated based on the experience of experts and evidences from other countries. It is necessary to study and develop appropriate regimens specific for Chinese WD patients.