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目的 探讨Alagille综合征(AGS)的临床表现特点及活体肝移植治疗AGS的手术疗效和预后.方法 2013年7月到2015年5月期间7例诊断为AGS的患儿(5男2女)在我中心接受了活体肝移植手术,供肝均来自患儿父母.患儿术前Child分级:B级4名,C级3名,均因终末期肝病接受活体肝移植手术.患儿中位年龄5岁(10个月至13岁1个月),术后中位随访时间11个月(5～23个月).结果 7例患儿中,所有患儿均存在慢性胆汁淤积和特殊面容的临床表现,6例患儿存在先天性心脏结构异常,6例患儿存在特征性肝内胆管稀少的表现.所有病例供、受体均手术成功,5例患儿存活至今,其术后胆汁淤积表现均得以纠正,肝功能在随访期间始终维持正常,黄色瘤体积逐渐减小,生长发育速度明显提高,术后1年患儿身高体重达到正常同龄儿水平.1例患儿移植术前接受胆囊结肠造瘘减黄手术,移植术后12d因结肠吻合口感染导致全身感染而死亡.1例患儿术后第三天因肺动脉破裂出血导致失血性休克伴多脏器功能衰竭死亡.结论 活体肝移植是治疗AGS的有效方式,仔细的体格检查和影像学检查并借助肝脏活检结果是诊断AGS最可靠的手段,准确的临床诊断对AGS患儿的预后有着重要的意义,而术前评估中排除患儿可能存在的内脏和颅内血管畸形可以有效避免围手术期意外的出现.“,”Objective To explore the clinical features of Alagille syndrome (AGS) and the efficacy and prognosis of living donor liver transplantation (LDLT).Methods From July 2013 to May 2015,7 children (5 males,2 females) of AGS underwent LDLT at our center.All grafts were harvested from their own parents.The Child-Pugh stages were B (n =4) and C (n =3).Their median age was 5years.And the median follow-up period was 11 months.Results Cholestasis and characteristic faces were observed in all of them.Heart defect was seen in 6/7.Liver biopsy showed a paucity of interlobular bile ducts in 6/7.After successful operations,5 patients survived so far.Among the survivors,cholestasis became relieved after LDLT and liver function normalized during the follow-ups.In 2 patients,xanthomata shrank in size after operation.Catch-up growth was observed in all.One patient underwent external biliary diversion before LDLT and died at 12 days post-LT due to systemic infection from infected colonic anastomoses.And another patient died at 3 days after LT due to rupture of pulmonary artery-related hemorrhagic shock and multiple organ failure.Conclusions LDLT is efficacious for AGS.Thorough physical,radiological and biopsy examinations help reach a definite diagnosis.And an accurate diagnosis of AGS is essential for its prognosis.Also eliminating the possibility of viscera and intracranial vascular malformations may lower the incidence of unpredictable events during perioperative period.