儿童反复发热相关急性肝衰竭的诊治

Diagnosis and treatment of fever-related recurrent acute liver failure in children

婴儿及儿童急性肝衰竭是严重危及生命的疾病,病因复杂。反复发作的急性肝衰竭(RALF)是指出现两次或两次以上急性肝损伤且至少有一次达到肝衰竭的诊断标准。RALF患儿在急性肝损伤发病间期生化指标可完全恢复正常。临床上RALF患儿病因除了感染、免疫、药物及毒物等因素,还有遗传性或代谢性疾病。部分遗传性肝病引起的RALF每次发作均与发热相关。本文讨论了NBAS、SCYL1及RINT1等基因缺陷病导致的反复发热相关急性肝衰竭诊治。

Acute liver failure(ALF)in infants and children is a severe life-threatening disease caused by multiple etiologies.Recurrent acute liver failure(RALF)is defined as the occurrence of acute liver injury two or more times,with at least one episode meeting the diagnostic criteria for ALF.Biochemical parameters usually return to normal between acute liver injury episodes in children with RALF.Clinical etiologies of RALF include infections,immunologic disorders,drug,and toxin,as well as hereditary or metabolic disorders,and some episodes of RALF caused by hereditary liver disorders are always associated with fever.This article discusses the diagnosis and treatment of fever-related RALF caused by genetic defects of NBAS,SCYL1,and RINT1.