原位减体积肝移植治疗小儿先天性代谢紊乱临床疗效观察

Clinical observation of orthotopic liver transplantation in the treatment of children with congenital metabolic diseases

目的 探讨肝移植治疗小儿先天性代谢紊乱的临床疗效。方法 采用同种异体背驮式原位减体积肝移植术及术后控制感染 ,免疫抑制 ,营养支持 ,监测各项临床及血生化指标等综合方法 ,治疗鸟氨酸甲酰基转移酶缺乏症 (OTCD)、糖原累积病Ⅰ型各 1例。结果 OTCD患儿术后 6个月 ,正常蛋白饮食 ,各项化验指标正常 ,生长发育和智能发育正常 ,FK5 0 6血药浓度维持在有效水平 ;糖原累积病Ⅰ型患儿术后 15个月 ,正常饮食 ,各项化验指标正常 ,体重增加 7kg ,身高增长 19cm ,FK5 0 6血药浓度维持在 6 7～ 8 4 μg/L。 结论 肝移植不失为小儿先天性代谢紊乱的一种有效的治疗方法。

Objective To explore the efficacy of liver transplantation in the treatment of children with congenital metabolic disorder.Methods Two 4～8 years children with congenital metabolic disorder (case 1 was ornithine transcarbamylase deficiency-OTCD,case 2 glycogen storage disease typeⅠ) were treated with orthotopic liver transplantation and comprehensive therapy including infection control,immunosuppression,nutritional supporting,clinical and biochemical monitoring.Results It took 6 months for case 1 and 15 months for case 2 to become normal in diet,serum ammonia,glucose,lactic acid,growth and intelligence after surgery.Case 2 increased 7kg in weight,19cm in height,maintained his FK506 concentration at 6 7～8 4 ng/mL.Conclusion Liver transplantation has been proven to be a safe and effective therapy in children with congenital metabolic disorder.