重视新生儿高氨血症

doi:10.12372/jcp.2022.22e1743

临床儿科杂志 ›› 2023, Vol. 41 ›› Issue (4): 247-251.doi: 10.12372/jcp.2022.22e1743

重视新生儿高氨血症

陈燕, 王琳()

华中科技大学同济医学院附属协和医院儿科（湖北武汉 430022）

收稿日期:2023-01-04 出版日期:2023-04-15 发布日期:2023-04-07
通讯作者: 王琳 E-mail:wl1894@126.com
基金资助:
国家自然科学基金青年科学基金(81300523);湖北省重点研发计划项目(2022BCA044)

Attention should be paid to neonatal hyperammonemia

CHEN Yan, WANG Lin()

Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China, 430022

Received:2023-01-04 Published:2023-04-15 Online:2023-04-07
Contact: WANG Lin E-mail:wl1894@126.com

摘要/Abstract

摘要：

新生儿高氨血症病因复杂、进展迅速，如漏诊或血氨控制不及时，会导致患儿生命危险或预后不良。但由于新生儿高氨血症临床表现缺乏特异性,加之临床医师认识不足,常导致误诊或漏诊。现对新生儿高氨血症诊治中的临床问题进行总结和讨论,以引起临床医师的重视，提高诊疗水平，降低致残率及病死率。

关键词: 新生儿, 高氨血症, 尿素循环障碍, 遗传代谢病

Abstract:

Neonatal hyperammonemia has complex etiology and rapid progression. If missed diagnosis or blood ammonia is not timely controlled, it will lead to life-threatening or poor prognosis of the child. However, due to the lack of specificity of clinical manifestations of neonatal hyperammonemia and the lack of knowledge of the disease, it often leads to misdiagnosis or missed diagnosis. This article summarizes and discusses the clinical problems in the diagnosis and treatment of neonatal hyperammonemia, in order to improve the attention and treatment level of clinicians, and reduce the disability rate and mortality.

Key words: newborn, hyperammonemia, urea cycle disorder, inherited metabolic disease

陈燕, 王琳. 重视新生儿高氨血症[J]. 临床儿科杂志, 2023, 41(4): 247-251.

CHEN Yan, WANG Lin. Attention should be paid to neonatal hyperammonemia[J]. Journal of Clinical Pediatrics, 2023, 41(4): 247-251.

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参考文献 21

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重视新生儿高氨血症

Attention should be paid to neonatal hyperammonemia

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