CAJ | 학술논문

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.
목적 탐토활체간이식수술치료진행성가족성간내담즙어적증(PFIC)적수술료효화예후.방법 2013년4월도2014년11월기간6례학진위PFIC적환인(4남2녀)재아중심접수료활체간이식수술,기중1례PFICⅠ형,2례위PFICⅡ형,3례위PFICⅢ형,중위년령위5.8세(0.8～14세),간경화실대상위소유환인적간이식수술지정.공체균위환인부모.환인술후중위수방시간20.5개월(7개월지26개월).결과 소유공、수체균수술성공,회복순리.환인술후혈청담즙산농도회복정상,황달소퇴,대사이상득이규정,술후2주좌우간공능회복도정상수평,제1례환인외기여3례수방초과1년적환인기본체도동령인동정상발육수평.소유환인균존활지금.1례환인(PFIC Ⅰ형)술후6개월기출현반복적복사,복용담즙흡부제류약물유소개선,간공능목전미견이상,2례환인술후출현유미루증상,1례환인출현폐부진균감염,경과치료균치유.결론 활체간이식가이유효적규정PFIC환인담즙산대사이상소인기적림상표현,술후생존솔령인만의;대우PFIC Ⅰ형환인,유우기변이기인재간외적표체,행간이식수술전수요경가전면적평고여분석.
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.