亲属活体肝移植治疗Ⅰ a型糖原累积症四例的疗效分析  

Living donor liver transplantation in treating glycogen storage disease type Ⅰ a

作　　者：刘源[1] 夏强[1] 张建军[1] 张婷[1] 陈其民[1] 沈从欢[1] 罗毅[1] 周韬[1] 邱必军[1] 陈小松[1] 韩龙志[1] 奚志峰[1] 

机构地区：[1]上海交通大学医学院附属仁济医院肝脏外科,200127

出　　处：《中华器官移植杂志》2015年第11期678-681,共4页Chinese Journal of Organ Transplantation

基　　金：上海市科学技术委员会科研计划-子课题“胆道闭锁的发病机制与肝移植治疗策略”（14411950404）;上海市卫生局重点联合攻关项目“儿童肝移植的临床与基础研究”（2013ZYJB0001）

摘　　要：目的 探讨亲属活体肝移植治疗Ⅰ a型糖原累积症（GSD Ⅰ a）的手术效果和预后.方法 2012年3月到2014年12月期间4例确诊为GSD Ⅰ a的患儿（2男2女）接受了亲属活体肝移植手术,患儿术前Child-pugh分级：A级1例,B级3例.患儿中位年龄为7.5岁（1～13.5岁）,供者均为患儿的父母.患儿术后中位随访时间为13个月（7～35个月）.结果 4例活体肝移植手术供、受者均手术顺利,术后恢复良好.患儿术后血糖水平即维持稳定,无需继续饮食治疗,术后2周肝功能恢复正常,高脂血症、高胆固醇血症和高乳酸血症等代谢异常得以纠正,术后1年左右患儿血红蛋白水平逐渐提高,贫血得到纠正.患儿术后生长发育状况有所改善,但术后18个月患儿仍未达到同龄儿童的平均水平.1例患儿术后6个月出现肾功能异常,予以减少他克莫司用量并增加吗替麦考酚酯用量后肾功能逐渐恢复正常.结论 肝脏存在恶性肿瘤倾向、严重的代谢紊乱和发育滞后是GSD Ⅰ a患儿接受肝移植的主要适应证,亲属活体肝移植是治疗Ⅰ a型糖原累积症的有效方法,患儿的低血糖、代谢紊乱和贫血均可得到有效改善;由于突变基因在肾脏中的持续表达和免疫抑制剂对肾脏的损伤,肝移植术后患儿需定期监测肾功能.Objective To investigate living donor liver transplantation （LDLT） for glycogen storage disease type Ⅰ a （GSD Ⅰ a）.Method From March 2012 to December 2014,4 children （2 males and 2 females） were diagnosed as GSD Ⅰ a and they all received LDLT in our center.Among them,1 was judged as Child-Pugh stage A and 3 as stage B.All patients received grafts from their parents.The median age of all patients was 7.5 years （1.0 to 13.5 years） and their median follow-up time was 13 months （7 to 35 months）.Result All patients had normal serum glucose level without any dietary treatment immediately after transplantation.Liver function returned to normal within 2 weeks after liver transplantation.The metabolic disorder was corrected and liver function stayed normal during the follow-up period.In 2 patients who had the follow-up time more than one year,serum hemoglobin level was increased.The anemia was corrected from one year after liver transplantation.Development was improved in all patients to some extent,but at 18th month after transplantation,no patient reached the average developmental level of normal population.Two patients suffered from acute graft rejection and cytomegalovirus infection,and 1 patient from catheter related infection.All of them were cured.In 1 patient,serum creatinine was increased at 6th month after liver transplantation.The dose of mycophenolate mofetil was increased and that of tacrolimus decreased.The kidney function of this patient returned to the normal level two weeks later.Conclusion The primary indications for liver transplantation in GSD Ⅰ a patients are suspicion of hepatocellular carcinoma,severe metabolic derangement and growth retardation.All donors and recipients recovered satisfactorily.LDLT is an effective way for the treatment of GSD Ⅰ a.After LT,the deranged glucose metabolism was corrected and development was improved.However,due to the expression of mutated gene G6PC in the kidney and renal toxicity of immunosuppressant,the kidney function of GSD Ⅰ a pat

关 键 词：儿童 糖原累积症 肝移植 疗效 

分 类 号：R726.5[医药卫生—儿科]