Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency

  • Kim, Hyo-Jeong (The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine) ;
  • Park, Se-Jin (Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine) ;
  • Park, Kook-In (The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine) ;
  • Lee, Jin-Sung (Department of Clinical Genetics, Yonsei University College of Medicine) ;
  • Eun, Ho-Sun (The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine) ;
  • Kim, Ji-Hong (The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine) ;
  • Shin, Jae-Il (The Institute of Kidney Disease, Department of Pediatrics, Yonsei University College of Medicine)
  • 투고 : 2011.01.06
  • 심사 : 2011.06.15
  • 발행 : 2011.10.15
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초록

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 > $1,700{\mu}g/dL$ (range, 0 to $45{\mu}g/dL$). 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.

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참고문헌

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피인용 문헌

  1. High-flow continuous hemodiafiltration for hyperammonemia associated with ornithine transcarbamylase deficiency: a case report vol.20, pp.1, 2011, https://doi.org/10.3918/jsicm.20.25
  2. Continuous Renal Replacement Therapy in a 4-year-old Child with Rhabdomyolysis Following Parainfluenza Virus Infection and Hyperammonemia due to Isovaleric Acidemia vol.17, pp.2, 2011, https://doi.org/10.3339/jkspn.2013.17.2.132
  3. 신생아와 영아의 지속적 신대체 요법 vol.18, pp.1, 2011, https://doi.org/10.3339/jkspn.2014.18.1.13
  4. Continuous Renal Replacement Therapy in the Neonatal Intensive Care Unit: A Single-Center Study vol.21, pp.4, 2011, https://doi.org/10.5385/nm.2014.21.4.244
  5. Neonatal Screening Tests for Inherited Metabolic Disorders using Tandem Mass Spectrometry: Experience of a Clinical Laboratory in Korea vol.5, pp.4, 2011, https://doi.org/10.3343/lmo.2015.5.4.196
  6. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency vol.24, pp.None, 2018, https://doi.org/10.12659/msm.911295
  7. Renal replacement therapy in neonates with an inborn error of metabolism vol.62, pp.2, 2011, https://doi.org/10.3345/kjp.2018.07143
  8. Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia vol.9, pp.None, 2021, https://doi.org/10.3389/fped.2021.732354