Abstract:

Objective To evaluate the clinical efficacy of liver transplantation in the treatment of ornithinetranscarbamylase deficiency（OTCD）. Methods This study retrospectively analyzed 5 children with OTCD induced hyperammonemia who underwent liver transplantation in our center，surgical related complications，postoperative blood ammonia levels，and liver function recovery were analyzed. Results All 5 patients received liver transplantation treatment，with 1 patient underwent secondary cholangiojejunostomy due to biliary fistula and 1 patient underwent secondary liver transplantation due to primary graft failure. All 5 patients had a rapid decrease in postoperative blood ammonia levels，which returned to normal levels within 14 days after surgery. Liver functionreturned to normal levels within 9 days，and partial relief of neurological damage was observed during long-termfollow-up. Conclusion Liver transplantation is a safe and effective treatment for OTCD patients，complete cure and improved their long-term quality of life could be achieved. 

Key words:

Ornithine aminotransferase deficiency, Liver transplantation, Children

摘要：

目的 评估肝移植治疗鸟氨酸氨甲酰基转移酶缺乏症（ornithine transcarbamylase deficiency，OTCD）的临床效果。 方法 本研究回顾性分析本中心收治的 5 例 OTCD 所致高氨血症接受肝移植术患儿资料，分析手术相关并发症，术后血氨水平、肝功能恢复情况。 结果 5 例患儿均接受肝移植治疗，1 例因胆瘘行二次胆肠吻合术，1 例因原发性移植物无功行二次肝移植术。5 例患儿术后血氨均迅速下降，术后14 d 内均恢复至正常水平，肝功能 9 d 内恢复正常水平，远期随访神经系统损伤部分缓解。 结论 肝移植对于 OTCD 患者的治疗是安全有效的，达到完全治愈，并可改善患者的远期生活质量。

关键词: 鸟氨酸氨甲酰基转移酶缺乏症 , ；肝移植 , ； , 儿童