摘要
目的探讨活体肝移植治疗Ⅰ型酪氨酸血症（HTI）的手术疗效和预后。方法2013年7月至2015年5月，4例确诊为HTI的患儿（3男1女）在我中心接受了活体肝移植手术，手术指征均为肝硬化失代偿及AFP过高。患儿术前Child分级：B级3例，C级1例。患儿中位手术年龄4．4岁（1．9～5．9岁），供体均为患儿父母。患儿术后中位随访时间17个月（9~24个月）。结果4例活体肝移植手术供、受体均手术顺利，术后恢复良好。患儿术后酪氨酸代谢恢复正常，异常代谢产物琥珀酰丙酮（SA）、琥珀酰乙酰乙酸（SAA）、延胡索酰乙酰乙酸（FAA）和马来酰乙酰乙酸（MAA）的血清水平下降到测不出水平，肝功能和AFP在随访期间都维持正常。术后电解质水平恢复正常，肾功能维持稳定。所有患儿术后均表现出追长趋势。并发症方面，1例患儿出现EBV病毒感染和急性排斥反应，1例患儿术后存在乳糜漏和反复腹水，1例患儿出院后6个月感染手足口病病毒，均得以治愈。结论活体肝移植是治疗HTI的有效方式，术后患儿的代谢异常、肝肾功能和AFP水平均恢复正常，其术后生存率令人满意，但长期随访应注意肾功能的检测。
Objective To explore the surgical outcomes of living donor liver transplantation （LDLT） for hereditary tyrosinemia type Ⅰ （HT Ⅰ ）. Methods From July 2013 to May 2015,3 boys and 1 girl,diagnosed as HT Ⅰ ,underwent LDLT at our center. The Child-Pugh stages were B （n= 3） and C （n = 1）. All grafts were harvested from their parents. Their median age at LT was 4. 4 years and median follow-up period was 17 months. Results All operations were successful and all four patients survived. After LDLT,the metabolism of tyrosine was restored to normal in all patients. That is, the serum levels of succinyl acetone （SA）, succinyl acetoaeetate （SAA）, fumaryl aeetoacetate （FAA） and maleyl acetoacetate （MAA） became normalized. All metabolic products of tyrosine decreased to undetected levels. Liver function and alpha-fetoprotein level were normal. Renal dysfunction prior to LDLT such as hypocalcaemia, hypophosphatemia and low serum bicarbonate returned to normal after LT and no immunosuppressant-related toxicity was observed. All of them showed catch-up growth after LDLT. All complications at 6 months after discharge, including EBV infection ＆ acute graft rejection （n = 1）, ehylous fistula ＆ intractable ascites （n = 1） and hand-foot-mouth infection （n = 1）, were cured. Conclusions As an effective treatment for HT1, LDLT yields clinical and biochemical improvements with a promising survival rate. However, long-term careful monitoring is necessary for assessing renal function post-LDLT.
出处
《中华小儿外科杂志》
CSCD
2017年第8期563-566,共4页
Chinese Journal of Pediatric Surgery
基金
上海市科学技术委员会科研计划（14411950404）
上海市卫生局重点联合攻关项目（2013ZYJB0001）
关键词
酪氨酸血症
肝移植
治疗效果
Tyrosinemias
Liver transplantation
Treatment effectiveness
