PDF(Pubmed)
Abstract：
BACKGROUND: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA.
METHODS: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children\'s National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently.
RESULTS: Eighty-five individuals with UCD were included in the analyses. Fifty-six of the 85 patients (66%) experienced HA crises, with a total of 163 HA events. Seizures are observed in 13% of HA events. Among all HA events with concomitant EEG, subclinical seizures were identified in 27% of crises of encephalopathy without clinical seizures and 53% of crises with clinical seizures. The odds of seizures increases 2.65 (95% confidence interval [CI], 1.51 to 4.66) times for every 100 μmol/L increase in ammonia and 1.14 (95% CI, 1.04 to 1.25) times for every 100 μmol/L increase in glutamine.
CONCLUSIONS: This study highlights the utility of EEG monitoring during crises for patients presenting with clinical seizures or encephalopathy with HA. During HA events, measurement of initial ammonia and glutamine can help determine risk for seizures and guide EEG monitoring decisions.
METHODS: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children\'s National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently.
RESULTS: Eighty-five individuals with UCD were included in the analyses. Fifty-six of the 85 patients (66%) experienced HA crises, with a total of 163 HA events. Seizures are observed in 13% of HA events. Among all HA events with concomitant EEG, subclinical seizures were identified in 27% of crises of encephalopathy without clinical seizures and 53% of crises with clinical seizures. The odds of seizures increases 2.65 (95% confidence interval [CI], 1.51 to 4.66) times for every 100 μmol/L increase in ammonia and 1.14 (95% CI, 1.04 to 1.25) times for every 100 μmol/L increase in glutamine.
CONCLUSIONS: This study highlights the utility of EEG monitoring during crises for patients presenting with clinical seizures or encephalopathy with HA. During HA events, measurement of initial ammonia and glutamine can help determine risk for seizures and guide EEG monitoring decisions.
摘要：
背景：这项在单个临床中心进行的回顾性临床研究旨在确定有或没有高氨血症（HA）危象的尿素循环障碍（UCD）患者的癫痫发作患病率。此外,我们试图将生化标志物和脑电图(EEG)在检测HA期间的亚临床癫痫发作中的应用联系起来.
方法：在2006年至2022年期间，在儿童国立医院参加尿素周期疾病联盟纵向研究（UCDC-LS）（NCT00237315）的UCD患者的医疗记录进行了审查，以了解临床和亚临床癫痫发作的证据在HA危机期间，和初始生化水平同时进行。
结果：85名UCD患者被纳入分析。85名患者中有56名(66%)经历了医管局危机，共有163次HA事件。在13%的HA事件中观察到癫痫发作。在所有伴随脑电图的HA事件中，在没有临床发作的脑病危象中,有27%和有临床发作的危象中发现了亚临床发作.癫痫发作的几率增加2.65(95%置信区间[CI]，氨每增加100μmol/L为1.51至4.66）倍，谷氨酰胺每增加100μmol/L为1.14（95％CI，1.04至1.25）倍。
结论：本研究强调了在危象期脑电图监测对表现为临床癫痫发作或HA脑病的患者的实用性。在HA事件期间，初始氨和谷氨酰胺的测量可以帮助确定癫痫发作的风险并指导脑电图监测决策。
方法：在2006年至2022年期间，在儿童国立医院参加尿素周期疾病联盟纵向研究（UCDC-LS）（NCT00237315）的UCD患者的医疗记录进行了审查，以了解临床和亚临床癫痫发作的证据在HA危机期间，和初始生化水平同时进行。
结果：85名UCD患者被纳入分析。85名患者中有56名(66%)经历了医管局危机，共有163次HA事件。在13%的HA事件中观察到癫痫发作。在所有伴随脑电图的HA事件中，在没有临床发作的脑病危象中,有27%和有临床发作的危象中发现了亚临床发作.癫痫发作的几率增加2.65(95%置信区间[CI]，氨每增加100μmol/L为1.51至4.66）倍，谷氨酰胺每增加100μmol/L为1.14（95％CI，1.04至1.25）倍。
结论：本研究强调了在危象期脑电图监测对表现为临床癫痫发作或HA脑病的患者的实用性。在HA事件期间，初始氨和谷氨酰胺的测量可以帮助确定癫痫发作的风险并指导脑电图监测决策。
