儿童肝移植治疗Alagille综合征的单中心经验  

Pediatric liver transplantation for Alagille syndrome: a single-center experience

作　　者：檀玉乐 朱志军[1] 孙丽莹[2] 魏林[1] 曲伟[1] 曾志贵[1] 张海明 刘颖[1] 王君[1] 李宏宇 Tan Yule;Zhu Zhijun;Sun Liying;Wei Lin;Qu Wei;Zeng Zhigui;Zhang Haiming;Liu Ying;Wang Jun;Li Hongyu(Department of General Surgery,Beijing Friendship Hospital,Capital Medical University,Clinical Center for Pediatric Liver Transplantation,Capital Medical University,National Clinical Research Center for Digestive Diseases,Beijing 100050,China;不详)

机构地区：[1]首都医科大学附属北京友谊医院普通外科首都医科大学儿童肝脏移植临床诊疗与研究中心国家消化系统疾病临床医学研究中心,100050 [2]首都医科大学附属北京友谊医院重症医学科,100050

出　　处：《器官移植》2022年第1期61-66,共6页Organ Transplantation

基　　金：首都卫生发展科研专项(首发2020-1-2024)。

摘　　要：目的探讨儿童肝移植治疗Alagille综合征(ALGS)的疗效。方法收集12例ALGS患儿的临床资料进行回顾性分析,分析ALGS患儿的临床特征和病肝组织病理学特点、肝移植的特点及其术后并发症和随访情况。结果12例患儿均存在JAG1基因突变和典型面部特征,黄疸是最常见的首发症状,在出生后7(3,40)d出现。患儿行肝移植时身高和体质量Z评分分别为-2.14(-3.11,-1.83)分和-2.32(-3.12,-1.12)分,5例患儿严重发育迟缓,4例患儿严重营养不良。12例患儿中8例伴有心血管异常。病理学检查结果显示,4例患儿病肝的小叶结构基本保持,8例存在大小不等结节性肝硬化,其中1例病肝检测到单个早期中分化肝细胞癌。3例患儿因误诊为胆道闭锁行葛西手术治疗。8例患儿行活体肝移植,3例患儿行尸体供肝肝移植(包括2例劈离式肝移植和1例尸体全肝移植),1例患儿行多米诺肝移植(供肝来自枫糖尿病患者)。在随访30.0(24.5,41.7)个月时,患儿和移植物存活率均为100%。在随访过程中,患儿身高和体质量Z评分分别为-1.24(-2.11,0.60)分和-0.83(-1.65,-0.43)分,表明患儿术后生长和发育情况明显改善。结论肝移植是治疗肝硬化失代偿期和严重瘙痒伴生活质量差的ALGS患儿的有效方法。伴随心血管异常的ALGS患儿,术前应进行详细评估,必要时联合儿科心脏病专家进行治疗。Objective To evaluate the clinical efficacy of liver transplantation in children with Alagille syndrome(ALGS).Methods Clinical data of 12 children with ALGS were collected and retrospectively analyzed.Clinical characteristics of children with ALGS,pathological characteristics of liver tissues,characteristics of liver transplantation,postoperative complications and follow-up of children with ALGS were analyzed.Results JAG1 gene mutation and typical facial features was present in all 12 children.Jaundice was the most common initial symptom,which occurred at 7(3,40)d after birth.Upon liver transplantation,the Z scores of height and body weight were calculated as-2.14(-3.11,-1.83)and-2.32(-3.12,-1.12).Five children developed severe growth retardation and 4 children with severe malnutrition.Eight of 12 children were diagnosed with cardiovascular abnormalities.Pathological examination showed that the lobular structure of the diseased livers of 4 children was basically maintained,and 8 cases of nodular liver cirrhosis in different sizes including 1 case of single early moderately-differentiated hepatocellular carcinoma.Three children were misdiagnosed with biliary atresia and underwent Kasai portoenterostomy.Eight children underwent living donor liver transplantation,three children underwent cadaveric donor liver transplantation(two cases of split liver transplantation and one case of cadaveric total liver transplantation),and one child underwent domino liver transplantation(donor liver was derived from a patient with maple syrup urine disease).during the follow-up of 30.0(24.5,41.7)months,the survival rates of the children and liver grafts were both 100%.During postoperative follow-up,the Z scores of height and body weight were calculated as-1.24(-2.11,0.60)and-0.83(-1.65,-0.43),indicating that the growth and development of the children were significantly improved after operation.Conclusions Liver transplantation is an efficacious treatment for children with ALGS complicated with decompensated cirrhosis,severe itching

关 键 词：ALAGILLE综合征 儿童肝移植 心血管异常 胆道闭锁 肝细胞癌 估算肾小球滤过率 儿童终末期肝病模型评分 葛西手术 

分 类 号：R617[医药卫生—外科学] R596[医药卫生—临床医学]