Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life
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DOI：
10.1016/j.ymgme.2004.12.011
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发表时间：
2005-04-01
影响因子：
3.8
通讯作者：
Babovic-Vuksanovic, D
中科院分区：
文献类型：
--
作者：
Ensenauer, R;Tuchman, M;Babovic-Vuksanovic, D
X连锁鸟氨酸转氨甲酰酶（OTC）缺乏症继发的新生儿高氨血症具有很高的发病和死亡风险。药物治疗的结果并不令人满意。对年幼受影响婴儿进行肝移植的经验有限。我们报告了一名严重 OTC 缺乏的男性新生儿，他在 60 天时成功接受了原位尸体肝移植。尽管新生儿期在技术上具有挑战性，但肝移植应尽早考虑，作为目前最有希望的治疗方法。 (c) 2005 Elsevier Inc. 保留所有权利。
Neonatal hyperammonemia secondary to X-linked ornithine transcarbamylase (OTC) deficiency carries a high risk of morbidity and mortality. Results of medical therapy are less than satisfactory. Experience with liver transplantation in very young affected infants is limited. We report a male newborn with severe OTC deficiency who underwent successful orthotopic, cadaveric liver transplantation at the age of 60 days. Although technically challenging in the neonatal period, liver transplantation should be considered early as the most promising treatment approach currently available. (c) 2005 Elsevier Inc. All rights reserved.