Article record

在早期治疗的婴儿型庞贝病患者中，夜间睡眠异常出现在运动功能恶化之前：一项为期二十年的新生儿筛查队列研究。

Nocturnal sleep abnormalities occur before motor function deterioration in early-treated patients with infantile-onset Pompe disease: a two-decade newborn screening cohort study.

临床研究耳科IF 3.2Q2

文献信息

PMID	42766946
原文	在 PubMed 查看原文 ↗
发表日期	2026
作者	Yin-Hsuan Chien 查看其他 9 位作者 Frank Leigh Lu；Pei-Lin Lee；Wei-Chung Hsu；Hui-An Chen；Rai-Hseng Hsu；Ni-Chung Lee；Wuh-Liang Hwu；Hsiao-Wen Chung；Yin-Hsiu Chien
作者单位	Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, Taipei City Hospital, Zhong-Xing Branch, Taipei, Taiwan. 查看其他 7 条单位信息 Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.；Sleep Center, National Taiwan University Hospital, Taipei, Taiwan; Department of Internal Medicine, College of Medicine, National Taiwan University, Taiwan; Sleep and Chronobiology Center, National Taiwan University Hospital Hsin-Chu Branch, Hsin-Chu, Taiwan.；Sleep Center, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, Head and Neck Surgery, National Taiwan University Hospital, Taipei, Taiwan; Department of Otolaryngology, College of Medicine, National Taiwan University, Taipei, Taiwan.；Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.；Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan.；Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwan University, Taiwan.；Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chienyh@ntu.edu.tw.
期刊	Neuromuscular disorders : NMD
SCI 分区	Q2
IF	3.2
研究类型	临床研究 · 临床
所属专科	耳科

中文摘要

背景： 早期开始酶替代治疗（ERT）用于婴儿型庞贝病（IOPD）极大地改善了患者的结局。然而，患者肌肉和呼吸系统的长期预后尚未完全阐明。方法：我们对一个早期治疗的IOPD患者队列进行了纵向研究，持续监测运动和呼吸功能（肺量计和多导睡眠图）。对粗大运动功能测量（GMFM）、用力肺活量（FVC）、呼吸暂停低通气指数（AHI）和氧减饱和度指数（ODI）之间的关系进行了统计分析。结果：16例患者（13例经典型和3例非经典型IOPD）随访至中位年龄16.0岁（范围7.5-19.6），提供了约244患者年的观察和132次多导睡眠图评估。16例患者中有11例出现AHI大于5次/小时（提示中度阻塞性睡眠呼吸暂停，几乎所有事件均为阻塞性呼吸暂停或低通气），Kaplan-Meier估计的中位年龄为7.8岁。7例患者在 median age of 17.5岁时被处方夜间呼吸支持。数据分析显示，FVC和AHI在变为不能行走的患者中比其他运动结局较好的患者恶化更快。然而，尽管FVC和AHI略有相关（r = -0.48），但在粗大运动或FVC相对正常的患者中也观察到睡眠呼吸暂停病例。结论：夜间睡眠异常可在早期治疗的IOPD患者中出现于运动和呼吸功能明显恶化之前。建议对所有此类患者进行多导睡眠图检查，并且可能需要夜间呼吸支持以预防发病和死亡。

英文摘要

Early institutions of enzyme replacement therapy (ERT) for infantile-onset Pompe disease (IOPD) greatly improved patients' outcome. However, the long-term prognosis of patients' muscular and respiratory systems has not been fully elucidated. We conducted a longitudinal study for a cohort of early-treated IOPD patients with continuous monitoring of motor and respiratory functions (spirometry and polysomnography). Statistical analyses were performed for the relationship between Gross Motor Function Measure (GMFM), forced vital capacity (FVC), apnea-hypopnea index (AHI), and oxygen desaturation index (ODI). Sixteen patients (13 classical and 3 nonclassical IOPD) were followed up to a median age of 16.0 years (range 7.5-19.6), providing approximately 244 patient-years of observation and 132 polysomnographic assessments. Eleven of the 16 patients developed an AHI greater than 5 events/hour (indicating moderate obstructive sleep apnea, with nearly all events being obstructive apneas or hypopneas) at a Kaplan-Meier-estimated median age of 7.8 years. Night-time respiratory support was prescribed for 7 patients at a median age of 17.5 years. Data analyses revealed that FVC and AHI deteriorated faster in patients who became non-ambulatory than in other patients with better motor outcome. However, although FVC and AHI correlated slightly (r = -0.48), cases with sleep apnea were observed in patients with relatively normal gross motor or FVC. Nocturnal sleep abnormalities can occur in early-treated IOPD patients before frank deterioration of motor and respiratory function. Polysomnography is recommended for all those patients, and night-time respiratory support may be necessary to prevent morbidity and mortality.