小儿尿素循环障碍

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摘要尿素循环障碍(urea cycle disorders,UCDs)是由参与氨解毒过程的酶或转运体的遗传缺陷引起的,这些酶或转运体的缺乏可导致血液和大脑中氨的毒性水平积累,若治疗不及时,可发展为脑病或者遗留神经系统后遗症,甚至死亡。UCDs可以在任何年龄出现,这取决于缺陷的类型和缺陷的严重程度,发病年龄越早,预后相对越差。目前尿素循环障碍的主要治疗手段包括:饮食、药物以及肝脏移植。部分患者可渡过急性发病的危险期,但遗留的神经系统损害以及疾病易反复发作的特点给患者造成巨大的痛苦,本文就尿素循环障碍发病机制、临床现状、诊治进展以及面临的挑战做一综述。

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	宋月
	张海涛
	任立红

关键词 ：尿素循环障碍, 遗传代谢病, 高氨血症, 低蛋白饮食, 肝移植

收稿日期: 2019-05-23

ZTFLH:

R72

通讯作者: 任立红(269045142@qq.com)

引用本文:

宋月, 张海涛, 任立红. 小儿尿素循环障碍[J]. 中国生育健康杂志, 2022, 33(1): 98-101.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2022/V33/I1/98

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