Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet
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DOI：
10.1111/hepr.12170
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发表时间：
2014-06-01
影响因子：
4.2
通讯作者：
Shimosegawa, Tooru
中科院分区：
文献类型：
--
作者：
Kogure, Takayuki;Kondo, Yasuteru;Shimosegawa, Tooru
我们报告了3例成人发作的II型瓜氨酸血症（CTLN 2），采用不同的治疗方法，其中1例成功地采用口服治疗。给予丙酮酸钠和低碳水化合物饮食。尽管肝移植的最新进展已经能够成功治疗CTLN 2患者，但仍存在一些关于肝移植的问题。此外，仍然迫切需要不依赖于肝移植的疗法。第一个病例是一名41岁男子，他在1992年出现意识障碍。患者接受肝性脑病常规治疗，死于严重脑水肿。第二个病例是一名31岁的男性，他突然出现晕厥样发作伴高氨血症。他接受了限制碳水化合物饮食的治疗，但脑病无法控制，他接受了紧急活体肝移植。第三例患者是一名67岁的男性，出现行为异常伴高氨血症。他一直保持良好的口服丙酮酸钠和低碳水化合物饮食，没有接受肝移植。
We report three cases of adult-onset type II citrullinemia (CTLN2) treated with different therapies including one case successfully treated with p.o. administration of sodium pyruvate and low-carbohydrate diet. Although recent advances in liver transplantation have enabled successful treatment of patients with CTLN2, several issues concerning liver transplantation remain. Further, there is still an urgent need for therapies that do not rely on liver transplantation. The first case was a 41-year-old man who developed impaired consciousness in 1992. The patient was treated with conventional therapy for hepatic encephalopathy and died of severe brain edema. The second case was a 31-year-old man who suddenly presented a syncope-like attack with hyperammonemia. He was treated with carbohydrate-restricted diet but the encephalopathy could not be controlled, and he received emergency living donor liver transplantation. The third patient was a 67-year-old man who developed abnormal behavior with hyperammonemia. He has remained well with oral sodium pyruvate and a low-carbohydrate diet without receiving liver transplantation.