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目的 探讨活体肝移植手术治疗进行性家族性肝内胆汁淤积症(PFIC)的手术疗效和预后.方法 2013年4月到2014年11月期间6例确诊为PFIC的患儿(4男2女)在我中心接受了活体肝移植手术,其中1例PFICⅠ型,2例为PFICⅡ型,3例为PFICⅢ型,中位年龄为5.8岁(0.8～14岁),肝硬化失代偿为所有患儿的肝移植手术指征.供体均为患儿父母.患儿术后中位随访时间20.5个月(7个月至26个月).结果 所有供、受体均手术成功,恢复顺利.患儿术后血清胆汁酸浓度恢复正常,黄疸消退,代谢异常得以纠正,术后2周左右肝功能恢复到正常水平,除1例患儿外其余3例随访超过1年的患儿基本达到同龄儿童正常发育水平.所有患儿均存活至今.1例患儿(PFIC Ⅰ型)术后6个月起出现反复的腹泻,服用胆汁吸附剂类药物有所改善,肝功能目前未见异常,2例患儿术后出现乳糜漏症状,1例患儿出现肺部真菌感染,经过治疗均治愈.结论 活体肝移植可以有效的纠正PFIC患儿胆汁酸代谢异常所引起的临床表现,术后生存率令人满意;对于PFIC Ⅰ型患儿,由于其变异基因在肝外的表达,行肝移植手术前需要更加全面的评估与分析.“,”Objective To explore the therapeutic efficacy of living donor liver transplantation (LDLT) for progressive familiar intrahepatic cholestasis (PFIC) in children.Methods Between April 2013 and November 2014,4 males and 2 females of PFIC underwent LDLT.The types were 1 (n =1),2 (n =2) and 3 (n =3).Their median age was 5.8 (0.8-14) years and median follow-up period 20.5 (7-26) months.And parental grafts were offered.End-stage liver disease was a major indication for LDLT.Results Operations were successful for all recipients and donors.Recovery was excellent after LDLT.Metabolic abnormalities and liver function were restored in all children after LDLT.Except for patient No.3,the remainder exhibited fair catch-up growth after LT and reached normal development at 1 year after LT.The 1-year survival rate and 1-year graft survival rate were all 100％.Patient 3,diagnosed as PFIC 1,had an onset of refractory diarrhea at 6 months after LDLT.Bile absorption agent could relieve his symptoms but offered no a full cure.Two patients developed chylous fistula and one had lung fungal infection.However,all recovered fully after treatments.Conclusions LDLT is efficacious for PFIC.It restores metabolic abnormalities with a satisfactory survival rate.For PFIC type 1 patients,due to an extrahepatic expression of mutated gene,more sophisticated pretransplant evaluations are necessary.