儿童肝豆状核变性急性肝衰竭的诊断与治疗

Diagnosis and treatment of acute liver failure in children with Wilson’s disease

急性肝衰竭(ALF)是儿童肝豆状核变性(WD)一种特殊的临床表现形式,相对罕见但极为严重;其特征为进行性加重的黄疸和显著的凝血功能障碍,伴急性血管内溶血,易并发肝性脑病、急性肾衰竭等严重并发症,一旦起病,进展迅速,病死率高。目前,表现为ALF的WD缺乏单一的快速诊断指标,早期诊断困难。既往多认为肝移植是其唯一治疗方法,现发现非肝移植的内科治疗可使部分儿童WD-ALF获得自体肝缓解和恢复。

Acute liver failure(ALF)is a rare and extremely severe clinical form of Wilson’s disease(WD),characterized by progressive aggravation of jaundice and significant coagulation disorder with acute intravascular hemolysis.There is a high risk of severe complications such as hepatic encephalopathy and acute renal failure,and the disease progresses rapidly after onset and has a high mortality rate.At present,it is difficult to diagnose WD presenting as ALF in the early stage due to a lack of unified indicators for rapid diagnosis.Liver transplantation was considered the only effective treatment method for this disease in the past;however,recent studies have shown that medical treatment without liver transplantation can achieve autologous liver relief and recovery in some patients with WD-ALF.