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  • 标题:Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
  • 本地全文:下载
  • 作者:Kim, Hyo Jeong ; Park, Se Jin ; Park, Kook In
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2011
  • 卷号:54
  • 期号:10
  • 页码:425-428
  • DOI:10.3345/kjp.2011.54.10.425
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as >1700 µg/dL (range, 0 to 45 µg/dL). Continuous renal replacement therapy (CRRT) in the mode of continuous venovenous hemodiafiltration was immediately applied to correct the raised ammonia level. No seizure occurred after the elevated ammonia level was reduced. Therefore, CRRT should be included as 1 of the treatment modalities for newborns with inborn errors of metabolism, especially hyperammonemia. Here, we report 1 case of successful treatment of hyperammonemia by CRRT in a neonate with OTC deficiency.

  • 关键词:Ornithine transcarbamylase deficiency; Hyperammonemia; Continuous renal replacement therapy; Infant; Newborn
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