Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency
Living-donor liver transplantation for carbamoyl phosphate synthetase 1 deficiency
复制标题
DOI：
10.1111/j.1399-3046.2010.01402.x
复制
发表时间：
2010-12-01
影响因子：
1.3
通讯作者：
Horikawa, Reiko
中科院分区：
文献类型：
--
作者：
Kasahara, Mureo;Sakamoto, Seisuke;Horikawa, Reiko
CPS 1是一种线粒体基质酶，催化尿素循环的第一个关键步骤，尿素循环是使用N-乙酰谷氨酸盐去除蛋白质代谢产生的氮的主要系统。CPS 1缺乏症患者有严重的高氨血症，导致严重的神经系统后遗症，有时甚至死亡。LT已被指示用于产后发作的CPS 1缺乏症。本研究回顾性分析了5名诊断为CPS 1缺乏症的儿童，他们接受了来自杂合子供体的LDLT。2005年11月至2010年5月，124名儿童接受了LDLT，总患者和移植物存活率为91.0%。5例患者因CPS 1缺乏而接受LDLT。所有受者的代谢紊乱均得到解决，无供体并发症，采用正常的喂养方案，未使用药物治疗其原有的代谢性肝病。LDLT，即使来自杂合子供体，似乎是一种可行的选择，与治疗CPS 1缺乏症患者的更好生活质量相关。因此，可能需要进行长期观察，以收集足够的数据来确认这种治疗方式的疗效。
CPS1 is a mitochondrial matrix enzyme that catalyzes the first committed step of the urea cycle, the primary system for removing nitrogen produced by protein metabolism using N-acetylglutamate. Patients with CPS1 deficiency have severe hyperammonemia that results in serious neurologic sequelae and sometimes death. LT has been indicated for neonatal-onset CPS1 deficiency. This study retrospectively reviewed five children with a diagnosis of CPS1 deficiency who underwent LDLT from heterozygous donors. Between November 2005 and May 2010, 124 children underwent LDLT with an overall patient and graft survival of 91.0%. Five patients were indicated for LDLT because of CPS1 deficiency. All recipients achieved resolution of their metabolic derangement, without donor complication, with a normal feeding regimen without medication for their original metabolic liver disease. LDLT, even from heterozygous donors, appears to be a feasible option, associated with a better quality of life for treating patients with CPS1 deficiency. Long-term observation may therefore be necessary to collect sufficient data to confirm the efficacy of this treatment modality.