CAJ | 학술논문

目的探讨肝移植治疗尿素循环障碍所致高氨血症的临床疗效和预后.方法回顾性分析2001年6月至2014年5月北京友谊医院和天津市第一中心医院收治的4例因尿素循环障碍行肝移植患儿的术前特点、肝移植手术情况及术后随访的资料.结果 4例患儿均因间断发作呕吐、意识障碍、性格行为改变等前来就诊,均通过基因检测及血、尿氨基酸分析确诊为鸟氨酸氨甲酰基转移酶缺陷所致高氨血症.首次发病年龄1.5 ～3.0岁,均为女性,分别于53.9、40.6、40.3、22.8个月时接受肝移植手术;例1和例2的供体为成人尸体供肝的左外侧叶,例3的供体为活体供肝的左外侧叶,例4的供体为儿童尸体供肝全肝;4例患儿术后肝功能逐渐恢复,血氨正常且恢复正常饮食,于术后25～ 30 d出院.术后定期随访,迄今已随访162.2、124.2、12.0和4.8个月,均健康存活,生长发育正常.结论肝脏移植是治疗尿素循环障碍导致高氨血症的重要手段,移植术后患儿可获得长期生存.
목적 탐토간이식치료뇨소순배장애소치고안혈증적림상료효화예후.방법 회고성분석2001년6월지2014년5월북경우의의원화천진시제일중심의원수치적4례인뇨소순배장애행간이식환인적술전특점、간이식수술정황급술후수방적자료.결과 4례환인균인간단발작구토、의식장애、성격행위개변등전래취진,균통과기인검측급혈、뇨안기산분석학진위조안산안갑선기전이매결함소치고안혈증.수차발병년령1.5 ～3.0세,균위녀성,분별우53.9、40.6、40.3、22.8개월시접수간이식수술;례1화례2적공체위성인시체공간적좌외측협,례3적공체위활체공간적좌외측협,례4적공체위인동시체공간전간;4례환인술후간공능축점회복,혈안정상차회복정상음식,우술후25～ 30 d출원.술후정기수방,흘금이수방162.2、124.2、12.0화4.8개월,균건강존활,생장발육정상.결론 간장이식시치료뇨소순배장애도치고안혈증적중요수단,이식술후환인가획득장기생존.
Objective To analyze clinical efficacy and prognosis of liver transplantation in children with hyperammonemia caused by urea cycle disorders.Method A retrospective analysis was performed on the occurrence of disease,operation and the follow-up post liver transplantation in 4 patients with urea cycle disorders who underwent liver transplantation during June 2001 to May 2014.Result Four girls were diagnosed with ornithine carbamoyl transferase deficiency by genetic test.They had the clinical onset at the age of 1.5 to 3.0 years.Liver transplantation had been performed at their age of 53.9 months,40.6 months,40.3 nonths and 22.8 months,respectively.The grafts of case 1 and case 2 were from left lateral lobe of liver of cadaveric donor,the graft of case 3 was from left lateral lobe of liver of a living donor,the graft of case 4 was a whole liver of a dead child.The liver function of 4 patients gradually returned to normal,blood ammonia levels were normal and restored the normal diet,4 children were discharged on postoperative 25-30 days.Regular follow-up was done,the liver function,biochemical features and growth status have been followed up for 162.2 months,124.2 months,12.0 months and 4.8 months after liver transplantation,respectively.Now,all the four cases are healthy and growth is normal.Conclusion Liver transplantation is an important way to the patients with severe hyperammonemia caused by urea cycle disorders.In this study,the patients with ornithine carbamoyl transferase defect got satisfactory long-term outcome after liver transplantation.