OBJECTIVE: Investigate the following hypotheses: 1) AHC patients manifest NSA that is often severe. 2) NSA is usually triggered by precipitating events. 3) NSA is more likely in patients with ATP1A3 mutations.
METHODS: Retrospective review of 51 consecutive AHC patients (ages 2-45 years) enrolled in our AHC registry. NSAs were classified as mild (not needing intervention), moderate (needing intervention but not perceived as life threatening), or severe (needing intervention and perceived as life threatening).
RESULTS: 19/51 patients (37 %) had 52 NSA events (6 mild, 11 moderate, 35 severe). Mean age of onset of NSA (± Standard Error of the Mean (SEM)): 3.8 ± 1.5 (range 0-24) years, frequency during follow up was higher at younger ages as compared to adulthood (year 1: 2.2/year, adulthood: 0.060/year). NSAs were associated with triggering factors, bradycardia and with younger age (p < 0.008 in all) but not with mutation status (p = 0.360). Triggers, observed in 17 patients, most commonly included epileptic seizures in 9 (47 %), anesthesia, AHC spells and intercurrent, stressful, conditions. Management included use of pulse oximeter at home in nine patients, home oxygen in seven, intubation/ventilatory support in seven, and basic CPR in six. An additional patient required tracheostomy. There were no deaths or permanent sequalae.
CONCLUSIONS: AHC patients experience NSAs that are often severe. These events are usually triggered by seizures or other stressful events and can be successfully managed with interventions tailored to the severity of the NSA.
目的:研究以下假设:1)AHC患者表现出通常严重的NSA。2)NSA通常由沉淀事件触发。3)NSA在ATP1A3突变患者中的可能性更大。
方法:回顾性回顾51例AHC患者(年龄2-45岁)纳入我们的AHC登记。NSA被归类为轻度(不需要干预),中度(需要干预,但不被视为危及生命),或严重(需要干预并被视为危及生命)。
结果:19/51患者(37%)有52例NSA事件(6例轻度,11中度,35严重)。NSA发病的平均年龄(±平均值标准误差(SEM)):3.8±1.5(范围0-24)岁,与成年期相比,年轻年龄的随访频率更高(1年:2.2/年,成年:0.060/年)。NSA与触发因素相关,心动过缓和年龄较小(全部p<0.008),但没有突变状态(p=0.360)。触发器,在17名患者中观察到,最常见的包括9例癫痫发作(47%),麻醉,AHC法术和并发,紧张,条件。管理包括9名患者在家中使用脉搏血氧计,家里的氧气在七,插管/通气支持在七个,6次基本心肺复苏.另外一名患者需要气管造口术。没有死亡或永久性后遗症。
结论:AHC患者经历通常严重的NSA。这些事件通常由癫痫发作或其他压力事件触发,并且可以通过针对NSA严重程度的干预措施成功管理。