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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Concurrent Ulcerative Colitis and Neurofibromatosis Type 1: The Question of a Common Pathway
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Concurrent Ulcerative Colitis and Neurofibromatosis Type 1: The Question of a Common Pathway

机译：并发溃疡性结肠炎和神经纤维瘤病1型：常见途径的问题

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Patients with neurofibromatosis type 1 (NF1) are prone to the development of gastrointestinal stromal tumors, which may present clinically with hematochezia, obstruction, or abdominal pain. These symptoms are also commonly associated with the presentation of ulcerative colitis (UC). Within the past 5 years, there have been 2 reports of concurrent NF1 and UC and a common pathophysiologic pathway involving mast cells has been postulated. We present the case of a 15-year-old boy with a known history of NF1 who presented with 3 months of hematochezia and loose stools. A colonoscopy revealed pancolitis and histology demonstrating acute cryptitis, focal crypt abscesses, and architectural distortion consistent with UC. Due to the paucity of reported cases, the findings of both diseases in the same individual could reasonably be discounted as coincidence. However, in light of increasing reports of concurrent NF1 and UC, advances in characterizing the microenvironment within neurofibromas, and recent findings regarding potential shared genetic susceptibility, it is increasingly possible that the proposed common pathway is accurate. Our case adds to the literature and underscores the need for further investigation.
机译：患有1型神经纤维瘤病（NF1）的患者容易出现胃肠道间质瘤，临床上可能会出现血便，阻塞或腹痛。这些症状通常也与溃疡性结肠炎（UC）的表现有关。在过去的5年中，已有2篇关于同时发生NF1和UC的报道，并且已经提出了涉及肥大细胞的常见病理生理途径。我们介绍了一个有NF1已知病史的15岁男孩的病例，他出现了3个月的便血和稀便。结肠镜检查显示胰腺炎和组织学表现为急性隐膜炎，局灶性隐窝脓肿和与UC一致的建筑畸变。由于报告的病例很少，因此可以将同一个人中两种疾病的发现合理地视作巧合。然而，鉴于并发NF1和UC的报道越来越多，表征神经纤维瘤内微环境的进展以及有关潜在共有遗传易感性的最新发现，提出的共同途径越来越可能是准确的。我们的案例增加了文献资料，并强调了进一步调查的必要性。

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