Abstract：
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy. Even though digestive manifestations are progressive and invariably lead to death, the features of gastrointestinal motor dysfunction have not been systematically evaluated. The objective of this study was to describe gastrointestinal motor dysfunction in MNGIE using state-of-the art techniques and to evaluate the relationship between motor abnormalities and symptoms.
Prospective study evaluating gastrointestinal motor function and digestive symptoms in all patients with MNGIE attended at a national referral center in Spain between January 2018 and July 2022.
In this period, five patients diagnosed of MNGIE (age range 16-46 years, four men) were evaluated. Esophageal motility by high-resolution manometry was abnormal in four patients (two hypoperistalsis, two aperistalsis). Gastric emptying by scintigraphy was mildly delayed in four and indicative of gastroparesis in one. In all patients, small bowel high-resolution manometry exhibited a common, distinctive dysmotility pattern, characterized by repetitive bursts of spasmodic contractions, without traces of normal fasting and postprandial motility patterns. Interestingly, objective motor dysfunctions were detected in the absence of severe digestive symptoms.
MNGIE patients exhibit a characteristic motor dysfunction, particularly of the small bowel, even in patients with mild digestive symptoms and in the absence of morphological signs of intestinal failure. Since symptoms are not predictive of objective findings, early investigation is indicated.
Prospective study evaluating gastrointestinal motor function and digestive symptoms in all patients with MNGIE attended at a national referral center in Spain between January 2018 and July 2022.
In this period, five patients diagnosed of MNGIE (age range 16-46 years, four men) were evaluated. Esophageal motility by high-resolution manometry was abnormal in four patients (two hypoperistalsis, two aperistalsis). Gastric emptying by scintigraphy was mildly delayed in four and indicative of gastroparesis in one. In all patients, small bowel high-resolution manometry exhibited a common, distinctive dysmotility pattern, characterized by repetitive bursts of spasmodic contractions, without traces of normal fasting and postprandial motility patterns. Interestingly, objective motor dysfunctions were detected in the absence of severe digestive symptoms.
MNGIE patients exhibit a characteristic motor dysfunction, particularly of the small bowel, even in patients with mild digestive symptoms and in the absence of morphological signs of intestinal failure. Since symptoms are not predictive of objective findings, early investigation is indicated.
摘要：
背景：线粒体神经胃肠脑肌病（MNGIE）是一种由TYMP突变引起的罕见线粒体疾病，编码胸苷磷酸化酶。临床上，其特征是与恶病质和脱髓鞘性感觉运动性多发性神经病相关的严重胃肠动力障碍。即使消化表现是渐进的，总是导致死亡，胃肠运动功能障碍的特征尚未得到系统评估。这项研究的目的是使用最先进的技术描述MNGIE中的胃肠道运动功能障碍，并评估运动异常与症状之间的关系。
方法：前瞻性研究评估2018年1月至2022年7月在西班牙国家转诊中心就诊的所有MNGIE患者的胃肠道运动功能和消化症状。
结果：在此期间，五名诊断为MNGIE的患者(年龄范围16-46岁，四名男子)进行了评估。4例患者通过高分辨率测压的食管动力异常（2例蠕动，两个人)。通过闪烁显像进行的胃排空轻度延迟了四个，其中一个指示胃轻瘫。在所有患者中，小肠高分辨率测压法表现出一种常见的，独特的运动障碍模式，以反复性的痉挛收缩为特征，没有正常的禁食和餐后运动模式的痕迹。有趣的是,目的在没有严重消化症状的情况下检测到运动障碍。
结论：MNGIE患者表现出特征性的运动功能障碍，尤其是小肠，即使在轻度消化症状和没有肠衰竭形态学体征的患者中。由于症状不能预测客观结果，早期调查表明。
方法：前瞻性研究评估2018年1月至2022年7月在西班牙国家转诊中心就诊的所有MNGIE患者的胃肠道运动功能和消化症状。
结果：在此期间，五名诊断为MNGIE的患者(年龄范围16-46岁，四名男子)进行了评估。4例患者通过高分辨率测压的食管动力异常（2例蠕动，两个人)。通过闪烁显像进行的胃排空轻度延迟了四个，其中一个指示胃轻瘫。在所有患者中，小肠高分辨率测压法表现出一种常见的，独特的运动障碍模式，以反复性的痉挛收缩为特征，没有正常的禁食和餐后运动模式的痕迹。有趣的是,目的在没有严重消化症状的情况下检测到运动障碍。
结论：MNGIE患者表现出特征性的运动功能障碍，尤其是小肠，即使在轻度消化症状和没有肠衰竭形态学体征的患者中。由于症状不能预测客观结果，早期调查表明。
