肝移植治疗先天性胆汁酸合成障碍的疗效分析

CIinical analysis of liver transplantation in congenital bile acid synthesis disorder

目的探讨肝移植治疗先天性胆汁酸合成障碍(congenital bile acid synthesis disorder,CBAS)的手术疗效。方法回顾性分析2015年10月至2022年12月在复旦大学附属华山医院进行肝移植手术治疗的5例CBAS患儿的临床资料。其中CBAS 1型患儿1例,CBAS 2型患儿2例,脑腱黄瘤病(cerebrotendinous xanthomatosis,CTX)患儿2例,男性患儿3例,女性患儿2例,中位年龄为9(7~12)个月。亲属活体肝移植4例,公民逝世后器官捐献(donation after citizen's death,DCD)肝移植1例。患儿术后中位随访时间为74(60~84)个月。分析患儿术前临床特征、术中情况、术后随访资料,并对肝移植治疗效果进行评估。结果所有手术均顺利完成,术后1例患儿出现排斥反应,1例患儿出现乳糜漏,2例患儿感染乙型肝炎病毒(hepatitis B virus,HBV)。术后1例患儿因肺部感染死亡,其余4例患儿肝功能恢复良好,且正常存活,黄疸、瘙痒等症状消退,生长发育情况有所改善。结论对于内科治疗效果不佳的CBAS患儿,肝移植是其有效治疗手段。

Objective To explore the therapeutic benefit of liver transplantation(LT)on congenital bile acid synthesis disorder(CBAS).Methods The clinical data of 5 cases with CBAS who underwent liver transplantation at Huashan Hospital affiliated to Fudan University from October 2015 to December 2022,were analyzed retrospectively.Among them,there was 1 patient with CBAS type 1,2 patients with CBAS type 2 and 2 patients with cerebrotendinous xanthomatosis(CTX).There were 3 males and 2 females.The median age was 9(7~12)months.There were 4 cases of living donor liver transplantation and 1 case of donation after citizen's death(DCD)liver transplantation.The median follow-up time after surgery was 74(60~84)months.The preoperative clinical characteristics,intraoperative conditions,postoperative follow-up data of the children were analyzed to evaluate the efficacy of liver transplantation.Results All the surgeries were completed successfully,and one child had rejection,one child had chyllesomerhea,and two children were infected with hepatitis B virus(HBV).After surgery,one child died due to lung infection,and the remaining 4 children recovered their liver function well and survived normally.Symptoms such as jaundice and itching subsided,and their growth and development improved.Conclusion Liver transplantation is an effective treatment for children with CBAS who do not respond well to medical treatment.