Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of severe transient hyperammonemia in a newborn

신생아의 심한 일과성 고암모니아혈증 1례

  • Hwang, Min-Woo (Department of Pediatrics, Wonkwang University School of Medicine) ;
  • Yu, Seung-Taek (Department of Pediatrics, Wonkwang University School of Medicine) ;
  • Oh, Yeon-Kyun (Department of Pediatrics, Wonkwang University School of Medicine)
  • 황민우 (원광대학교 의과대학 소아과학교실) ;
  • 유승택 (원광대학교 의과대학 소아과학교실) ;
  • 오연균 (원광대학교 의과대학 소아과학교실)
  • Received : 2010.01.31
  • Accepted : 2010.03.02
  • Published : 2010.04.15
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Abstract

Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>$4,000{\mu}mol/L$). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

신생아 일과성 고암모니아혈증은 고암모니아혈증을 특징으로 하며 대부분 호흡곤란 치료를 받는 미숙아에서 발생한다. 발생원인은 정확히 알려져 있지 않으나 생후 2-3일에 호흡 곤란, 기면, 경련, 혼수 등의 임상 증상을 보이고, 생화학적 검사 상 혈중암모니아 농도가 현저히 증가하며 요소회로 효소 치는 정상을 보인다. 치료가 늦으면 사망에 이르는 응급을 요하는 질환이나 즉각적이고 적절한 치료 시 신경학적 손상을 남기지 않고 호전 가능하다. 저자들은 호흡곤란을 보여 호흡기 치료를 받던 35주 미숙아에서 48시간 내에 경련과 함께 혼수상태에 빠지고 검사상 고암모니아혈증을 보여 신투석 등의 치료 후 회복되었으며 2년 추적관찰에서 정상을 보인 환아를 보고하는 바이다.

Keywords

References

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