睡眠障碍儿童的代谢组学分析：一项探索性初步研究

文献信息

中文摘要

目的： 分析睡眠障碍儿童的代谢组学特征，以了解是否存在与睡眠障碍严重程度和类型（神经性或呼吸性）相关的独特且特定的代谢模式。材料与方法：这是一项观察性初步研究。因睡眠障碍（包括神经性和呼吸相关睡眠障碍）转诊至我科的患者被纳入研究。所有患者均接受了病史询问、临床评估、多导睡眠图睡眠研究和尿液收集用于代谢组学分析。结果：阻塞性睡眠呼吸暂停（OSA）患者被分为轻度和中度，第三组为异态睡眠患者。与轻度患者相比，中度OSA和夜惊患者的草酸和核糖升高，而3-羟基丙酸降低。此外，与轻度患者相比，中度OSA患者的焦谷氨酸、氨基丙二酸、尿素、对甲酚、甘氨酸、4-羟基苯乙酸、柠檬酸和乙醇胺升高。最后，与轻度患者相比，中度患者的马尿酸和谷氨酸降低。富集分析显示，尿素循环、色氨酸代谢、葡萄糖-丙氨酸循环、谷胱甘肽代谢和β-丙氨酸代谢是OSA患者之间最显著的判别途径，而磷酸戊糖途径、丙酸代谢、Warburg效应、柠檬酸循环和乙酰基转移至线粒体是轻度OSA和夜惊患者之间最显著的判别途径。结论：我们的数据揭示了代谢组学与睡眠障碍之间有趣的关联，值得在更大的患者队列中进一步研究，并整合不同方法以增强对该领域的理解，指导临床医生实现精准和个性化的患者管理。

英文摘要

Objectives: To analyze the metabolomic profile of children with sleep disorders to understand whether there are distinct and specific metabolic patterns related to the severity and type of sleep disorders (neurological or respiratory). Materials and Methods: This is an observational pilot study. Patients referred to our department for sleep disorders-both neurological and breath-related sleep disturbances-were enrolled. All patients received an anamnestic interview, clinical evaluation, polysomnographic sleep study and urine collection for the metabolomic analysis. Results: Obstructive sleep apnea (OSA) patients were divided into mild and moderate while the third group was represented by patients with parasomnias. The oxalic acid and ribose increased in moderate OSA and pavor compared to mild patients, while 3-hydroxypropionic decreased. Furthermore, the pyroglutamic acid, aminomalonica acid, urea, p-cresol, glycine, 4-hydroxyphenyl acetate, citric acid and ethanolamine increased in moderate OSA patients with respect to mild ones. Finally, hippuric acid and glutamic acid decreased in moderate patients compared to mild ones. The enrichment analysis revealed that urea cycle, tryptophan metabolism, glucose-alanine cycle, glutathione metabolism and beta-alanine metabolism were the most significantly discriminant pathways between OSA patients, while the pentose phosphate pathway, propanoate metabolism, Warburg effect, citric acid cycle and transfer of acetyl group into mitochondria were the most significantly discriminant pathways between mild OSA and pavor patients. Conclusions: our data reveal interesting correlations between metabolomics and sleep disorders that deserve further investigations in larger cohorts of patients and the integration of different approaches to enhance our understanding of the field and guide clinicians toward precise and personalized patient management.