2型婴儿肝功能衰竭综合征发病机制及治疗研究进展

Advances in the pathogenesis and treatment of infantile liver failure syndrome-2

2型婴儿肝功能衰竭综合征(infantile liver failure syndrome-2,ILFS2)是一种罕见的由神经母细胞瘤扩增序列(neuroblastoma amplified sequence,NBAS)基因突变引起的常染色体隐性遗传性疾病,主要表现为反复发生与发热/感染相关的急性肝功能衰竭(acute liver failure,ALF),首次发作多见于婴儿期或幼儿期(8月龄~3岁)。该病最大的特点是两次肝功能衰竭发作间歇期肝功能可完全恢复,基因检测有助于确诊。目前ILFS2的发病机制尚未完全了解,临床上主要以个体化的对症支持治疗为主,当疾病发展到终末期,肝移植是唯一的治疗方法。该文就ILFS2的发病机制及治疗现况进行综述。

Infantile liver failure syndrome-2(ILFS2)is a rare autosomal recessive disorder caused by neuroblastoma amplified sequence(NBAS)gene mutation,manifested as recurrent acute liver failure(ALF)with fever/infection-related pathogenesis.First-onset ALF is common in infants or early childhood(8 months to 3 years of age).The main characteristic of this disease is that the liver function can be recovered completely in the interval,and the definitive diagnosis is based on the identification of NBAS gene mutation in gene analysis.Until now,the pathogenesis of ILFS2 is not yet fully understood.Patients can be treated by supportive treatment clinically,while liver transplantation is the only treatment option currently available for patients with end-stage ALF.This review will focus on the recent progress in the pathogenesis and treatment of ILFS2.