CARDIAC AND RESPIRATORY AUTONOMIC CONTROL DURING SLEEP IN FAMILIAL DYSAUTONOMIA

家族性自主神经紊乱患者睡眠期间的心脏和呼吸自主控制

• 批准号: 7378315
• 负责人: Max J. Hilz
• 金额: $ 1.4万
• 依托单位: NEW YORK UNIVERSITY SCHOOL OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7378315
• 关键词: CARDIAC; RESPIRATORY; AUTONOMIC; CONTROL; DURING

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Familial dysautonomia (FD), i.e. the hereditary sensory and autonomic neuropathy (HSAN) type III, or Riley-Day-Syndrome, is a rare autosomal recessive disorder with extensive central and peripheral autonomic perturbations, accounting for cardio- and cerebrovascular dysregulation as well as compromised respiratory control. Although the prognosis for FD has markedly improved with better treatment, patients with FD still succumb to severe hypertensive dysautonomic crises and sudden unexplained death. Clinically, such events frequently occur during sleep or arousal from sleep, particularly in early morning hours or after having taken a nap. It is still unclear why and how the crises and sudden fatalities are linked to the sleep cycle in FD. However, dysfunction of several mechanisms, such as baroreflexes and chemoreflexes that should assure respiratory and cardiovascular adaptation to autonomic changes occurring at various NREM phases, during REM sleep and arousal, has been documented in FD. Therefore, we hypothesize that inadequate responses to those changes during sleep and arousal phases are a major cause of life threatening cardiovascular emergencies in FD patients. We assume that a detailed evaluation of cardiovascular autonomic function during sleep and wakefulness will better elucidate the mechanisms of those emergencies in FD and will possibly allow for therapeutical interventions mitigating some of the sleep related cardiovascular instability in FD patients.

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。家族性自主神经功能异常（FD），即遗传性感觉和自主神经病变（HSAN）III型，或称为D-D综合征，是一种罕见的常染色体隐性遗传疾病，具有广泛的中枢和外周自主神经紊乱，导致心血管和脑血管失调以及呼吸控制受损。虽然FD的预后随着更好的治疗而明显改善，但FD患者仍然死于严重的高血压自主神经功能障碍危象和不明原因的猝死。在临床上，这些事件经常发生在睡眠或从睡眠中唤醒，特别是在清晨或小睡后。目前还不清楚为什么以及如何将危机和突然死亡与FD的睡眠周期联系起来。然而，功能障碍的几种机制，如压力反射和化学反射，应确保呼吸和心血管适应自主神经的变化发生在不同的NREM阶段，在REM睡眠和觉醒，已被记录在FD。因此，我们推测，在睡眠和觉醒阶段对这些变化的反应不足是FD患者危及生命的心血管急症的主要原因。我们假设，在睡眠和觉醒期间的心血管自主神经功能的详细评估将更好地阐明FD中的这些紧急情况的机制，并可能允许治疗干预，减轻FD患者中的一些睡眠相关的心血管不稳定。