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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。 -
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
Abstract: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 and poor quality of life. For children with ALGS complicated with cardiovascular abnormalities, explicit preoperative evaluation should be delivered, and consultation with pediatric cardiologists should be performed if necessary. -
表 1 12例ALGS患儿的临床资料
Table 1. Clinical data of 12 children with ALGS
例序 性别 月龄(月) 病肝组织病理学特点 心脏或血管异常 眼睛异常 椎体异常 其他 肝移植类型 GRWR①(%) 术后并发症 随访时间(月) 1 男 17 胆汁淤积、肝硬化、小胆管缺乏 无 -② 蝴蝶椎 高甘油三酯血症 活体肝移植(左外叶) 3.8 肠穿孔 29 2 女 16 胆汁淤积、肝硬化、小胆管增生 三尖瓣轻度反流 - 无 高甘油三酯血症 活体肝移植(左外叶) 2.5 无 28 3 男 108 小胆管缺乏、肝硬化 无 无 无 无 活体肝移植(左外叶) 1.6 腹腔出血 26 4 女 14 胆汁淤积、肝硬化、中分化肝细胞癌 动脉导管未闭、卵圆孔未闭、肺动脉狭窄 - 无 高甘油三酯血症 活体肝移植(左外叶) 3.2 无 24 5 男 36 胆汁淤积 卵圆孔未闭、肺动脉狭窄 - 无 高甘油三酯血症 活体肝移植(左外叶) 1.6 无 19 6 女 12 胆汁淤积、小胆管缺乏 肺动脉狭窄 无 无 无 尸体供肝肝移植 4.2 移植肝动脉闭塞 48 7 男 11 肝硬化、小胆管缺乏 室间隔缺损(膜周部)、动脉导管未闭、卵圆孔未闭 - 蝴蝶椎 黄色瘤、高甘油三酯血症 活体肝移植(左外叶) 2.9 无 43 8 男 72 小胆管缺乏 室间隔缺损、动脉导管未闭 - 无 高甘油三酯血症、黄色瘤 活体肝移植(左外叶) 2.1 无 38 9 女 24 小胆管缺乏、胆汁淤积 主动脉瓣二叶瓣畸形、主动脉瓣狭窄 - 无 高甘油三酯血症 活体肝移植(左外叶) 3.0 无 31 10 男 10 小胆管缺乏、胆汁淤积、肝硬化 动脉导管未闭、肺动脉狭窄 - 无 无 多米诺供肝肝移植(枫糖尿病) 2.7 无 12 11 男 132 胆汁淤积、肝硬化、小胆管增生 无 - 蝴蝶椎 无 劈离式肝移植(左半肝) 1.5 无 42 12 男 16 胆汁淤积、肝硬化、小胆管增生 无 无 蝴蝶椎 高甘油三酯血症 劈离式肝移植(左外叶) 3.1 无 41 注:①GRWR为移植物与受者质量比。
②-为无数据。 -
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