新生儿高氨血症的早期诊断及精准干预

doi:10.12372/jcp.2023.23e0164

摘要/Abstract

摘要：

新生儿高氨血症(NHA)是一种发生在新生儿期的危重症，发展迅速、死亡率高。新生儿期多种遗传和非遗传疾病可导致血氨增高，其病因复杂，如尿素循环障碍、有机酸血症、脂肪酸代谢病以及其他严重全身疾病均可导致获得性高氨血症。临床表现缺乏特异性，及早发现，明确病因，可通过喂养管理、降氨药物以及血液透析等进行精准干预，改善预后。

关键词: 高氨血症, 尿素循环障碍, 遗传代谢病, 脑病, 新生儿

Abstract:

Neonatal hyperammonemia (NHA) is a neonatal critical disease with high neonatal mortality and rapid progression. During the neonatal period, increased blood ammonia can be caused by a variety of genetic and non-genetic disorders with complex causes, such as urea cycle disorders, organic acidemia, fatty acid metabolism disorders, and acquired hyperammonemia due to other serious systemic diseases. The presenting clinical features are not specific. Early detection and identification of etiology and precise intervention through feeding management, amino-reducing drug and hemodialysis can improve the prognosis.

Key words: hyperammonemia, urea cycle disorder, inherited metabolic disorder, encephalopathy, neonate

张拥军, 朱天闻. 新生儿高氨血症的早期诊断及精准干预[J]. 临床儿科杂志, 2023, 41(4): 241-246.

ZHANG Yongjun, ZHU Tianwen. Early diagnosis and precise intervention of neonatal hyperammonemia[J]. Journal of Clinical Pediatrics, 2023, 41(4): 241-246.

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