在神经纤维素瘤 I 型神经纤维素瘤中肠部神经肌肉表现
John A Damianos1, Kristina A Matkowskyj2, Michael Camilleri1
1Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.), Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
神经纤维素瘤 I 型 (NF1) 可以导致成年人胃肠道阻塞和动力障碍. 在NF1中,神经病性肠道问题可以通过心力测量和组织学分析来确定.
科学领域:
- 胃肠病学 胃肠病学
- 神经学 神经学
- 遗传学 遗传学 是一个
背景情况:
- 影响神经发育的遗传综合征可能会影响肠道神经系统,导致儿童动力障碍.
- 神经纤维素瘤类型I (NF1) 是一种遗传性疾病,可能涉及肠道神经系统.
研究的目的:
- 审查成年人中神经纤维素炎I型 (NF1) 的肠部神经肌肉表现.
- 描述NF1患者的胃肠道和运动异常.
主要方法:
- 在第三级推中心审查医疗记录.
- 临床表现的分析,放射学,病理学和专业的运动性测试 (食道,胃,结肠,门测量,过境研究,气球驱逐测试).
主要成果:
- 在2406名NF1患者中,胃肠道表现 (阻塞或不运动) 发生在2%的患者中.
- 13名患者患有阻塞 (瘤,神经纤维瘤,状神经瘤).
- 三十八名患者有异常的肠道运动 (胃衰竭,缓慢的过渡,异同排便) 与神经病变的尺度证据.
结论:
- NF1患者可能出现机械阻塞或神经病变性动力障碍综合征 (胃衰竭,慢慢的结肠过渡).
- 在NF1中,神经病变性不运动的特点是,以人体测量结果和肌肉学证据表明肌肉异常或扩散性状神经瘤.
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