Abstract：
In this prospective cohort study, we evaluated features of \"adult-onset megacolon with focal hypoganglionosis.\"
We assessed the radiologic, endoscopic, and histopathologic phenotyping and treatment outcomes of 29 patients between 2017 and 2020. Data from community controls, consisting of 19,948 adults undergoing health screenings, were analyzed to identify risk factors. Experts reviewed clinical features and pathological specimens according to the London Classification for gastrointestinal neuromuscular pathology.
The median age of the patients with adult-onset megacolon with focal hypoganglionosis at symptom onset was 59 years (range, 32.0-74.9 years), with mean symptom onset only 1 year before diagnosis. All patients had focal stenotic regions with proximal bowel dilatation (mean diameter, 78.8 mm; 95% confidence interval [CI], 72-86). The comparison with community controls showed no obvious risk factors. Ten patients underwent surgery, and all exhibited significant hypoganglionosis: 5.4 myenteric ganglion cells/cm (interquartile range [IQR], 3.7-16.4) in the stenotic regions compared to 278 cells/cm (IQR, 190-338) in the proximal and 95 cells/cm (IQR, 45-213) in the distal colon. Hypoganglionosis was associated with CD3+ T cells along the myenteric plexus. Colectomy was associated with significant symptom improvement compared to medical treatment [change in the Global Bowel Satisfaction score, -5.4 points (surgery) vs. -0.3 points (medical treatment); p < 0.001].
Adult-onset megacolon with focal hypoganglionosis has distinct features characterized by hypoganglionosis due to inflammation. Bowel resection appears to benefit these patients.
We assessed the radiologic, endoscopic, and histopathologic phenotyping and treatment outcomes of 29 patients between 2017 and 2020. Data from community controls, consisting of 19,948 adults undergoing health screenings, were analyzed to identify risk factors. Experts reviewed clinical features and pathological specimens according to the London Classification for gastrointestinal neuromuscular pathology.
The median age of the patients with adult-onset megacolon with focal hypoganglionosis at symptom onset was 59 years (range, 32.0-74.9 years), with mean symptom onset only 1 year before diagnosis. All patients had focal stenotic regions with proximal bowel dilatation (mean diameter, 78.8 mm; 95% confidence interval [CI], 72-86). The comparison with community controls showed no obvious risk factors. Ten patients underwent surgery, and all exhibited significant hypoganglionosis: 5.4 myenteric ganglion cells/cm (interquartile range [IQR], 3.7-16.4) in the stenotic regions compared to 278 cells/cm (IQR, 190-338) in the proximal and 95 cells/cm (IQR, 45-213) in the distal colon. Hypoganglionosis was associated with CD3+ T cells along the myenteric plexus. Colectomy was associated with significant symptom improvement compared to medical treatment [change in the Global Bowel Satisfaction score, -5.4 points (surgery) vs. -0.3 points (medical treatment); p < 0.001].
Adult-onset megacolon with focal hypoganglionosis has distinct features characterized by hypoganglionosis due to inflammation. Bowel resection appears to benefit these patients.
摘要：
背景：在这项前瞻性队列研究中，我们评估了成年发病的巨结肠伴局灶性神经节减少症的特征。\"
方法：我们评估了放射学，内窥镜,2017年至2020年29例患者的组织病理学表型和治疗结果。来自社区控制的数据，由19,948名正在接受健康检查的成年人组成，进行分析以确定风险因素。专家根据伦敦胃肠道神经肌肉病理学分类审查了临床特征和病理标本。
结果：成年发作的巨结肠伴局灶性神经节减少症患者在症状发作时的中位年龄为59岁（范围，32.0-74.9年），平均症状仅在诊断前1年出现。所有患者均有局灶性狭窄区域伴近端肠扩张(平均直径，78.8毫米；95%置信区间[CI]，72-86).与社区对照相比，没有明显的危险因素。十名病人接受了手术,并且均表现出显着的神经节减少症：5.4个肌间神经节细胞/cm（四分位距[IQR]，3.7-16.4)在狭窄区域与278个细胞/厘米(IQR，190-338）在近端和95个细胞/厘米（IQR，45-213）在远端结肠。神经节减少与沿着肌间神经丛的CD3T细胞有关。与药物治疗相比，结肠切除术与显著的症状改善相关[全球肠道满意度评分的变化，-5.4分（手术）与-0.3分（医疗）；p<0.001]。
结论：成人发作的巨结肠伴局灶性神经节减少症具有明显的特征，其特征是炎症引起的神经节减少。肠切除术似乎对这些患者有益。
方法：我们评估了放射学，内窥镜,2017年至2020年29例患者的组织病理学表型和治疗结果。来自社区控制的数据，由19,948名正在接受健康检查的成年人组成，进行分析以确定风险因素。专家根据伦敦胃肠道神经肌肉病理学分类审查了临床特征和病理标本。
结果：成年发作的巨结肠伴局灶性神经节减少症患者在症状发作时的中位年龄为59岁（范围，32.0-74.9年），平均症状仅在诊断前1年出现。所有患者均有局灶性狭窄区域伴近端肠扩张(平均直径，78.8毫米；95%置信区间[CI]，72-86).与社区对照相比，没有明显的危险因素。十名病人接受了手术,并且均表现出显着的神经节减少症：5.4个肌间神经节细胞/cm（四分位距[IQR]，3.7-16.4)在狭窄区域与278个细胞/厘米(IQR，190-338）在近端和95个细胞/厘米（IQR，45-213）在远端结肠。神经节减少与沿着肌间神经丛的CD3T细胞有关。与药物治疗相比，结肠切除术与显著的症状改善相关[全球肠道满意度评分的变化，-5.4分（手术）与-0.3分（医疗）；p<0.001]。
结论：成人发作的巨结肠伴局灶性神经节减少症具有明显的特征，其特征是炎症引起的神经节减少。肠切除术似乎对这些患者有益。
