探讨肝移植治疗儿童遗传代谢性肝病的安全性和临床疗效。

回顾性分析2014年1月至2024年7月中山大学附属第三医院行肝移植治疗的44例遗传代谢性肝病患儿的临床资料。其中男25例，女19例；年龄6~191个月，中位年龄69个月。观察术前儿童终末期肝病模型（PELD）评分、身高体重标准化Z评分、移植物特征、供肝来源、术后并发症、生存预后等，并与胆道闭锁肝移植比较分析。受者和移植物存活率计算采用Kaplan-Meier生存分析。组间比较采用秩和检验或t检验。

同期儿童肝移植305例，儿童遗传代谢性肝病占比14.4%（44/305），仅次于胆道闭锁的56.7%（173/305）。供肝类型包括亲属活体肝移植8例，公民逝世后器官捐献的全肝移植14例，公民逝世后器官捐献的减体积肝移植2例，公民逝世后器官捐献的劈离式肝移植20例。遗传代谢性肝病患儿术前身高Z评分、体重Z评分分别为（-1.4±1.7）、（-0.6±1.5）分，均明显高于胆道闭锁患儿的（-2.1±0.9）、（-1.3±1.5）分（t=3.489，2.675；P<0.05）；而两组PELD评分分别为13（-1~22）、15（7~22）分，差异无统计学意义（Z=-0.934，P>0.05）。肝移植术后并发症中肺部感染发生率6.8%（3/44），其次为急性排斥反应4.5%（2/44）及急性上呼吸道感染4.5%（2/44）。1、2、3年受者累积生存率和移植物累积存活率分别为95.45%、95.45%、95.45%和95.45%、95.45%、93.18%。肝移植术后大部分患儿代谢指标和神经系统症状得到不同程度的缓解和改善，生长发育状况得到一定程度的改善，尤其是在肝移植手术后1年，其身高和体重的Z评分升高明显。

遗传代谢性肝病患儿数量巨大，肝移植已成为治疗遗传代谢性肝病的重要手段，每个病种肝移植手术时机和围手术期处理不同，需根据患者自身情况加以分析与选择，多种术式尤其是劈离式肝移植在部分程度上缓解了供肝短缺。PELD 评分系统并不能充分满足该部分患儿的临床需求，亟需制定更为合理的器官分配评分标准，以确保这些患儿能够及时获得肝移植治疗。

To evaluate the safety and clinical efficacy of liver transplantation for children with inherited metabolic liver disease.

Clinical data of 44 children with inherited metabolic liver disease who underwent liver transplantation in the Third Affiliated Hospital of Sun Yat-sen University from January 2014 to July 2024 were retrospectively analyzed. Among them, 25 patients were male and 19 female, aged from 6 to 191 months, with a median age of 69 months. Preoperative pediatric end-stage liver disease (PELD) score, Z scores of weight and height, allograft characteristics, postoperative complications and survival and prognosis of liver donors were observed, and compared analysis was conducted with patients undergoing liver transplantation for biliary atresia. Kaplan-Meier survival analysis was used to calculate the survival rates of recipients and grafts. Group comparison was conducted by rank-sum test or t test.

Among 305 children undergoing liver transplantation, the proportion of children with inherited metabolic liver disease was 14.4%(44/305), secondary to 56.7%(173/305) of biliary atresia. The types of donor liver included 8 cases of living donor liver transplantation, 14 cases of total liver transplantation from organ donation after citizen death, 2 cases of reduced-size liver transplantation from organ donation after citizen death, and 20 cases of split liver transplantation from organ donation after citizen death, respectively. Preoperative Z score for height and weight in children with inherited metabolic liver disease were (-1.4±1.7) and (－0.6±1.5), significantly higher than (－2.1±0.9) and (－1.3±1.5) in those with biliary atresia (t=3.489, 2.675; both P<0.05). However, PELD scores between two groups were 13 (－1-22) and 15 (7-22), and the difference was not statistically significant (Z=-0.934, P>0.05). In the spectrum of complications after liver transplantation, the incidence of pulmonary infection rate was 6.8%(3/44), followed by 4.5%(2/44) for acute rejection and 4.5%(2/44) for acute upper respiratory tract infection. The cumulative 1-, 2-and 3-year survival rates of the recipients and grafts were 95.45%, 95.45%, 95.45% and 95.45%, 95.45%, 93.18%, respectively. After liver transplantation, a majority of metabolic indexes and nervous system symptoms were alleviated to varying degrees. In addition, the growth and development status were improved to certain extent, especially at 1 year after liver transplantation, the Z scores for height and weight were significantly increased.

The quantity of children with inherited metabolic liver disease is high. Liver transplantation has emerged as an important treatment for inherited metabolic liver disease. The timing and perioperative management of liver transplantation for each disease are different, which should be analyzed and selected according to individual condition. Multiple surgical approaches, especially split liver transplantation, can alleviate the shortage of donor liver to some extent. PELD scoring system cannot fully meet clinical needs of these children. It is urgent to formulate a more reasonable organ allocation scoring standard to ensure that these children can undergo liver transplantation in a timely manner.