
《新生儿高氨血症诊断与治疗的专家共识》解读
Interpretation of the "Expert consensus on the diagnosis and treatment of neonatal hyperammonemia"
该文对2023年5月《中国当代儿科杂志》发表的《新生儿高氨血症诊断与治疗的专家共识》进行解读,解读重点包括氨的神经毒性、病因分类、诊断、营养管理及药物治疗,旨在增强血氨检测意识,不能因等待病因检查而推迟治疗,以达到推动新生儿高氨血症诊断与治疗的目的。
This paper provides an interpretation of the "Expert consensus on the diagnosis and treatment of neonatal hyperammonemia" published in the May 2023 issue of the Chinese Journal of Contemporary Pediatrics. The interpretation focuses on key aspects such as the neurotoxicity of ammonia, classification of etiologies, diagnosis, nutritional management, and pharmacological treatment. The aim is to enhance awareness about ammonia testing and emphasize that treatment should not be delayed while awaiting etiological investigation, thereby advancing the diagnosis and treatment of neonatal hyperammonemia.
Hyperammonemia / Metabolic disease / Diagnosis / Treatment / Neonate
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中华医学会儿科学分会新生儿学组青年委员会. 新生儿高氨血症诊断与治疗的专家共识[J].中国当代儿科杂志, 2023, 23(5): 437-447. DOI: 10.7499/j.issn.1008-8830.2302140 .
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中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组, 中华医学会儿科学分会临床营养学组, 中华医学会儿科学分会内分泌遗传代谢学组, 等. 单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J]. 中国实用儿科杂志, 2018, 33(7): 481-486. DOI:10.19538/j.ek2018070601 .
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中华人民共和国国家卫生健康委员会. 国家卫生健康委办公厅关于印发罕见病诊疗指南(2019年版)的通知: 国卫办医函〔2019〕198号[EB/OL]. (2019-02-27)[2025-01-11].
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蔡成、赵武、郝虎负责文献检索和整理、共识解读及论文撰写;赵武、郝虎负责循证医学指导、指南解读、统计学指导;蔡成、史源负责论文设计、写作指导、共识解读、审阅、修改。