Abstract:

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 welland survived normally. Symptoms suchasjaundice and itching subsided，and their growth and development improved. Conclusion Liver transplantation is aneffective treatment for children withCBAS whodo notrespond well to medicaltreatment. 

Key words:

Pediatric , Congenital bile acid synthesis disorder , Cerebrotendinous xanthomatosis , Livertransplantation, Outcome

摘要：

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。

关键词:

儿童 , 先天性胆汁酸合成障碍 , 脑腱黄瘤病 , 肝移植 , 疗效