• 대한임상독성학회지
• /
• 제14권2호
• /
• pp.136-143
• /
• 2016

Purpose: In patients with altered mentality caused by drugs or unknown causes, ammonia is checked to facilitate differential diagnosis or diagnose hepatic coma. This helps early prevention and treatment of brain damage due to hyperammonemia. This study was conducted to evaluate clinical characteristics of intoxicated adult patients with hyperammonemia. Methods: We evaluated 95 patients with hyperammonemia among intoxicated patients above the age of 15 who visited our ED from January 2013 to December 2015. We analyzed the demographic characteristics and type of poisoning substance, reason for ingestion, toxicological characteristics such as elapsed time from ingestion to hospital visit, lab, clinical progression and complications. Data were evaluated using the student's t test or Mann-Whitney U test for continuous variables, and Chi-square test and Fisher's exact test for frequency analysis of categorical variables. Results: When compared to healthy individuals, patients with hyperammonemia showed statistical significance on their SOFA score (p=0.016) and poison severity score (p<0.001). Additionally, patients with hyperammonemia showed significantly different initial serum AST level (p=0.012) and maximum serum AST level during the hospital stay (p=0.026) when compared to healthy individuals. Moreover, individuals with sustained hyperammonemia compared to transient hyperammonemia showed clinically significant SOFA scores (p<0.001), poison severity scores (p=0.007), mortality rates in the ICU (p=0.021), as well as different duration of hospital stay (p=0.037), serum creatinine level (p=0.002), erythrocyte sedimentation rate (p=0.025), and serum myoglobin (p=0.015). Conclusion: Most poisoning-induced hyperammonemia cases were transient and recovered without special treatment. Therefore, hyperammonemia is almost non-specific among poisoning patients.

• Journal of Genetic Medicine
• /
• 제7권1호
• /
• pp.87-90
• /
• 2010

신생아 시기의 고암모니아혈증은 고암모니아성 뇌병증에 의하여 심각한 뇌기능의 장애를 일으킬 수 있다. 이 중 신생아 일과성 고암모니아혈증 (transient hyperammonemia of newborn, THAN)은 신생아 시기에만 일시적으로 고암모니아 혈증을 보이고, 신생아시기에 적절한 진단과 치료를 통해 양호한 예후를 보이는 질환이다. 그러나 일부에서는 고도의 고암모니아 혈증을 보여 이에 대한 응급치료를 요하기도 한다. 본 증례 보고에서는 신생아 시기에 고암모니아혈증이 발견되어, 신대치요법과 약물치료 후호 전된 1례를 기술하고자 한다. 환아는 이후 생후9개월까지 정상 식이와 약물치료 없이 정상발달을 보이며, 고암모니아혈증의 재발이 없었다.

• Childhood Kidney Diseases
• /
• 제25권2호
• /
• pp.112-116
• /
• 2021

Hyperammonemia is mainly caused by diseases related to liver failure. However, there are also non-hepatic causes of hyperammonemia, such as urinary tract infection (UTI) due to urease-producing organisms. Urease production by these bacteria induces a hydrolysis of urinary urea into ammonia that can cross the urothelial cell membrane and diffuse into blood vessels, leading to hyperammonemia. Delayed diagnosis and treatment of hyperammonemia can lead to lethal encephalopathy that can cause brain damage and life-threatening conditions. In the presence of obstructive uropathy, UTI by urease-producing bacteria can lead to more severe hyperammonemia due to enhanced resorption of ammonia into the systemic circulation. In this report, we present a case of acute severe hyperammonemic encephalopathy leading to brain death due to accumulation of ammonia in blood caused by Morganella morganii UTI in a 10-year-old girl with cloacal anomaly, causing obstructive uropathy even after multiple corrections.

• Clinical and Experimental Pediatrics
• /
• 제62권2호
• /
• pp.43-47
• /
• 2019

Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism. High levels of ammonia are extremely neurotoxic, leading to astrocyte swelling, brain edema, coma, severe disability, and even death. Thus, emergency treatment for hyperammonemia must be initiated before a precise diagnosis is established. In neonates with hyperammonemia caused by an inborn error of metabolism, a few studies have suggested that peritoneal dialysis, intermittent hemodialysis, and continuous renal replacement therapy (RRT) are effective modalities for decreasing the plasma level of ammonia. In this review, we discuss the current literature related to the use of RRT for treating neonates with hyperammonemia caused by an inborn error of metabolism, including optimal prescriptions, prognosis, and outcomes. We also review the literature on new technologies and instrumentation for RRT in neonates.

• Clinical and Experimental Pediatrics
• /
• 제53권4호
• /
• pp.598-602
• /
• 2010

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.

• Childhood Kidney Diseases
• /
• 제7권1호
• /
• pp.96-102
• /
• 2003

저자들은 methymalonic acidemia로 진단된 체중 2.4 kg의 생후 5일된 여아에서 지속적 정정맥 투석 여과법(CVVHDF)을 이용하여 혈역학적 불안정 상태나 특별한 후유증 없이 체내 암모니아를 효과적으로 제거하였기에 보고하는 바이다.

• Clinical and Experimental Pediatrics
• /
• 제54권10호
• /
• pp.425-428
• /
• 2011

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.

• Childhood Kidney Diseases
• /
• 제17권2호
• /
• pp.132-136
• /
• 2013

Parainfluenza virus 감염은 횡문근융해증의 하나의 원인이 될 수 있다. 횡문근융해증은 지속된 금식기간동안 미토콘드리아 지방산 ${\beta}$-oxidation 장애에 의해 악화될 수 있다. 또한 후기 발생 isovaleric 산증을 가진 환아들에게서 고암모니아혈증이 이화작용을 일으키는 상태 후 발생할 수 있다. 본 케이스는 parainfluenza virus 감염과 후기 발생 isovaleric 산증을 가진 4세 남아가 혼수, 경련 및 심호흡 부전으로 빠르게 진행했던 경우이다. 초기 암모니아와 creatinine kinase는 각각 $385{\mu}Mol/L$과 23,707 IU/L 이었으나 지속적 신대체요법 시행 후 암모니아와 creatinine kinase 수치는 정상으로 돌아왔다. 그러므로 생명을 위협하는 횡문근융해증과 고암모니아혈증을 가진 환아들의 치료에 있어서 즉각적인 지속적 신대체요법의 사용을 권하는 바이다.

• 대한소아신경학회지
• /
• 제25권3호
• /
• pp.204-207
• /
• 2017

Hyperornithinemia-hyperammonemia-homocitrullinuria 증후군(HHH 증후군)은 경한 학습장애에서 심각한 뇌증에 이르기까지 다양한 신경학적 증상을 보일 수 있는 신경대사질환이다. HHH 증후군은 임상 증상이나 대사 검사 결과가 뚜렷하지 않아 진단이 늦어지는 경우가 흔한데, 이러한 경우 유전자 검사로 확진하는 것이 중요하다. 저자들은 강직성 하반신 마비를 가진 소아와 무증상의 여동생에서 HHH 증후군을 진단하고 유전자 검사를 통해 SLC25A15 유전자의 c.535C>T (p.R179^*)와 c.116C>A (p.T39K) 변이를 확인하였다. p.R179^*는 일본과 중동의 HHH 환자들에서 흔히 발견되는 변이로 한국인에서도 발견됨을 확인하였고, p.T39K는 HHH 증후군을 유발하는 새로운 변이임을 최초로 보고하는 바이다.

• 대한유전성대사질환학회지
• /
• 제22권1호
• /
• pp.15-20
• /
• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.