亲体肝移植治疗儿童遗传代谢病的疗效分析  

Analysis of the efficacy of living donor liver transplantation in the treatment of pediatric inborn errors of metabolism

作　　者：刘辉[1] 哈力穆拉提·胡西塔尔 李万富[1] 高伟[2] 董冲[2] 孙超[2] 阿尔新·哈布丁 古力米热木·买买提江 阿依古再丽·麦麦江 叶力阿曼·加依拉吾 陈治达 王浩宇 Liu Hui;Halimulati Huxitaer;Li Wanfu;Gao Wei;Dong Chong;Sun Chao;Aerxin Habuding;Gulimiremu Maimaitijiang;Ayiguzaili Maimaijiang;Yeliaman Jiayilawu;Chen Zhida;Wang Haoyu(Department of Pediatric General Surgery,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China;Department of Pediatric Organ Transplantation,Tianjin First Central Hospital,Tianjin 300192,China)

机构地区：[1]新疆医科大学第一附属医院小儿普外科,乌鲁木齐830054 [2]天津市第一中心医院儿童器官移植科,天津300192

出　　处：《临床小儿外科杂志》2025年第3期220-225,共6页Journal of Clinical Pediatric Surgery

基　　金：2023天山英才人才培养计划(TSYC202301A072);新疆维吾尔自治区重点研发任务专项项目资助(2023B03018—2);新疆医科大学第一附属医院2023年青年科研启航专项基金(2023YFY—QKQN—10)。

摘　　要：目的分析亲体肝移植治疗儿童遗传代谢病(inborn errors of metabolism,IEM)的临床效果。方法回顾性分析新疆医科大学第一附属医院2021年1月至2024年7月间18例行亲体肝移植手术的遗传代谢病患儿(为遗传代谢病组)临床资料,分析其治疗效果及并发症情况,并与本中心同期21例行亲体肝移植的非遗传代谢病患儿(为非遗传代谢病组)进行术前资料与累计生存率的比较,同时比较遗传代谢病组患儿术前、术后6个月的体重Z评分、身高Z评分。结果18例遗传代谢病患儿原发病包括:肝豆状核变性8例、酪氨酸血症2例、先天性肝纤维化4例、枫糖尿病1例、Caroli病1例、糖原累积症Ⅰ型1例、Alagille综合征1例。遗传代谢病组患儿与非遗传代谢病组患儿移植月龄分别为114.00(96.00,132.00)个月、6.57(5.68,77.00)个月,身高Z评分分别为(-0.77±1.62)分、(-1.91±2.30)分;差异均有统计学意义(P<0.05)。遗传代谢病组中术后有7例出现不同程度并发症,经对症治疗后治愈;1例围手术期因弥散性血管内凝血死亡。两组中位随访时间19.75个月,遗传代谢病组与非遗传代谢病组患儿术后累计生存率分别为87.5%和84.6%,差异无统计学意义(P>0.05);遗传代谢病组术前和术后6个月身高、体重Z评分分别为(-0.77±1.62)分和(-1.22±2.26)分、(-0.27±1.29)分和(0.03±0.92)分,差异均具有统计学意义(P<0.05)。结论亲体肝移植可以有效治疗部分遗传代谢病,改善患儿生长发育迟缓,提高患儿的生存率和生活质量。Objective To analyze the clinical outcomes of living donor liver transplantation in the treatment of pediatric inborn errors of metabolism(IEM).Methods A retrospective analysis was conducted on the clinical data of 18 pediatric patients with IEM who underwent living donor liver transplantation at the First Affiliated Hospital of Xinjiang Medical University from January 2021 to July 2024(IEM group).The treatment outcomes and postoperative complications were analyzed and compared with 21 pediatric patients without IEM who underwent living donor liver transplantation at the same period(non-IEM group).Preoperative clinical data and cumulative survival rates were compared between the two groups,as well as changes in weight Z-scores and height Z-scores in the IEM group before surgery and at six months postoperatively.Results Among the 18 pediatric patients with IEM,the primary diseases included Wilson’s disease(n=8),tyrosinemia(n=2),congenital hepatic fibrosis(n=4),maple syrup urine disease(n=1),Caroli disease(n=1),glycogen storage disease typeⅠ(n=1),and Alagille syndrome(n=1).The median age at transplantation in the IEM and non-IEM groups was 114.00(96.00,132.00)months and 6.57(5.68,77.00)months,respectively,and the height Z-scores were(-0.77±1.62)and(-1.91±2.30),respectively.These differences were statistically significant(P<0.05).Postoperatively,seven patients in the IEM group experienced varying degrees of complications,all of whom recovered after symptomatic treatment.One patient died in the perioperative period due to disseminated intravascular coagulation.The median follow-up period was 19.75 months.The cumulative postoperative survival rates in the IEM and non-IEM groups were 87.5%and 84.6%,respectively,with no statistically significant difference(P>0.05).In the IEM group,the height and weight Z-scores before surgery and six months postoperatively were(-0.77±1.62)vs.(-1.22±2.26)and(-0.27±1.29)vs.(0.03±0.92),respectively,with statistically significant differences(P<0.05).Conclusions Living donor liver

关 键 词：遗传代谢性疾病 亲体肝移植 外科手术 儿童 

分 类 号：R726.5[医药卫生—儿科]