Clinical and high-resolution manometric characteristics of secondary esophageal motility disorders
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摘要: 食管动力障碍（esophageal motility disorders，EMD）是一类由于食管神经调控异常或肌肉功能失调所致的疾病，其病因复杂，涉及原发性和继发性因素。继发性EMD常由神经系统疾病（如帕金森病、脑卒中）或免疫性疾病（如系统性硬化症）引发，这些疾病通过影响食管的自主神经、平滑肌或结缔组织，导致上食管括约肌（upper esophageal sphincter, UES）、食管蠕动异常、下食管括约肌（lower esophageal sphincter, LES）功能失调或食团传输障碍。EMD的临床表现多样，包括吞咽困难、胸痛、反流等，严重时可影响生活质量并增加并发症发生风险，如吸入性肺炎或营养不良。由于其症状非特异性，EMD的诊治往往具有挑战性，需要依赖客观的生理学评估手段。高分辨率食管测压（high resolution esophageal manometry, HREM）以36-64通道固态导管沿食管全长连续采样，生成高时空分辨率压力地形图，已成为评估食管动力障碍的“金标准”。HREM能够精确分析食管各段的运动模式，包括UES/LES收缩/松弛功能、食管体部蠕动幅度、蠕动速度以及食团传输效率。在神经系统疾病中，如帕金森病常导致食管动力减退和UES/LES功能障碍；脑卒中后EMD多表现为吞咽协调障碍。在免疫性疾病中，系统性硬化症相关的EMD以食管平滑肌纤维化为特征，HREM典型表现为低幅度蠕动，易并发胃食管反流病。此外，本文还探讨了这些继发性EMD的病理生理机制，如神经变性、自身免疫反应或纤维化进程，以及HREM在监测疾病进展和治疗反应中的应用价值。本文旨在综述部分神经和免疫疾病继发EMD的临床特征及HREM表现，以期为早期识别和综合管理提供新的评估依据。Abstract:
Objective Esophageal motility disorders (EMD) comprise a spectrum of conditions characterized by impairments in neuromuscular coordination leading to abnormal esophageal function. Etiologies are multifactorial, encompassing both primary idiopathic forms and disorders secondary to neurological or immune-mediated diseases. Notable secondary causes include Parkinson's disease, stroke and systemic sclerosis. These conditions disrupt esophageal motility through mechanisms such as autonomic denervation, smooth muscle dysfunction, and connective tissue fibrosis, resulting in compromised upper esophageal sphincter (UES) function, aberrant peristalsis, inadequate lower esophageal sphincter (LES) relaxation, or impaired bolus clearance. Clinical manifestations are heterogeneous and commonly include dysphagia, chest pain, and regurgitation. Severe cases may lead to significant morbidity, including aspiration pneumonia and malnutrition, profoundly diminishing quality of life. The nonspecific nature of symptoms complicates diagnosis, underscoring the necessity for objective physiological assessment. High-resolution esophageal manometry (HREM), utilizing a solid-state catheter with 36-64 pressure sensors, enabling detailed topographic visualization of esophageal pressure dynamics with high spatiotemporal resolution. It is currently the gold-standard modality for evaluating esophageal motor function, permitting precise characterization of UES and LES function, peristaltic vigor and propagation, and bolus transit patterns. This review synthesizes current evidence on the clinical and manometric features of EMD secondary to neurological and autoimmune conditions. Key manometric phenotypes include hypomotility and UES/LES dysfunction in Parkinson's disease, dyssynergia and uncoordinated motility following stroke, and hypocontractility with prevalent gastroesophageal reflux disease (GERD) in systemic sclerosis. We further elucidate the underlying pathophysiological mechanisms-such as neurodegeneration, autoimmunity, and fibrotic remodeling-and discuss the utility of HREM in tracking disease progression and evaluating treatment responses. Our objective is to enhance early recognition and inform holistic management strategies for these complex disorders. -
表 1 导致继发性食管动力障碍的部分常见神经/免疫系统疾病
Table 1. Certain common neurological/immune system diseases causing secondary esophageal motility disorders
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表 2 继发性食管动力障碍的常见症状
Table 2. Common symptoms of secondary esophageal motility disorders
症状 疾病 补充说明 吞咽困难[4, 16-18] 绝大部分SEMD ◆进行性加重需警惕食管癌◆中枢病变(如延髓)以吞咽反射启动延迟为核心；外周病变则以肌肉收缩力丧失为特征 胸痛[9, 19] 绝大部分SEMD 易与心绞痛混淆：◆心源性胸痛常伴压榨感/放射痛◆反流性胸痛与体位/进食相关 反酸/反食、烧心[9, 15, 17, 20, 21] 主要见于胃食管反流病(gastroesophageal reflux disease，GERD) 反流物常含未消化食物，平卧位加重，可导致误吸；抑酸剂可缓解 呕吐[18] 主要见于SSc等 喷射性呕吐提示中枢性疾病 体重下降与营养不良[22-23] 绝大部分SEMD 进行性吞咽困难+消瘦需警惕食管癌 嗳气[20] 绝大部分SEMD ◆频繁嗳气(>20次/d)需排除器质性疾病◆精神因素相关的嗳气常伴焦虑/睡眠障碍 声音改变/咽喉部异物感[18, 24] 主要见于GERD、MG等 ◆GERD致喉部刺激(反流性咽喉炎) ◆MG伴声音嘶哑及吞咽困难，晨轻暮重 咳嗽[18] 主要见于以无效食管运动(ineffective esophageal motility, IEM)为食管动力障碍表现的SEMD ◆慢性咳嗽(>8周)需排查反流及哮喘◆夜间干咳常见于反流，与卧位时酸暴露相关
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