[艾勒斯-丹洛斯综合征中的胃肠道参与:病例系列和系统审查]
1Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences,Beijing 100730, China.
Zhonghua nei ke za zhi
|October 7, 2024
概括
埃勒斯-丹洛斯综合征 (EDS) 患者通常会出现胃肠道问题,血管EDS (vEDS) 会导致穿孔,高移动EDS (hEDS) 会引起功能症状. 在COL3A1中发生的基因突变是常见的.
科学领域:
- 遗传学 遗传学 是一个
- 胃肠病学 胃肠病学
- 罕见疾病 罕见疾病
背景情况:
- 埃勒斯-丹洛斯综合征 (EDS) 是一组遗传性结缔组织疾病.
- 胃肠道 (GI) 症状是EDS的已知的并发症,影响患者的生活质量.
- 了解跨EDS亚型的特定GI参与对于诊断和管理至关重要.
研究的目的:
- 研究被诊断患有埃勒斯-丹洛斯综合征和并发性胃肠道并发症的患者的临床和遗传特征.
- 根据特定的EDS亚型来区分胃肠道表现.
主要方法:
- 从2003年到2023年,对北京联合医学院医院 (PUMCH) 的临床数据进行了回顾性分析.
- 对PubMed,Embase,Web of Science和Cochrane图书馆数据库 (2000-2023) 的系统文献审查.
- 关于患者人口统计,临床表现,遗传突变和EDS亚型的数据综合.
主要成果:
- 确定了94例涉及胃肠道的EDS (5例来自PUMCH,89例来自文献).
- 胃肠道穿孔 (48.9%) 是最常见的问题,其次是功能性胃肠道症状 (35.1%).
- 血管EDS (vEDS,53.2%) 和高移动EDS (hEDS,21.3%) 是最常见的亚型,其中COL3A1突变是最常见的 (31.9%).
- hEDS患者主要表现出功能性胃肠道症状 (90%),而vEDS患者则出现胃肠道穿孔 (66%) 和动脉问题 (18%).
结论:
- 血管EDS和高流动EDS是与胃肠道问题相关的最常见的EDS亚型.
- 功能性胃肠道症状是hEDS相关的胃肠道问题的特征.
- 胃肠道穿孔和消化动脉疾病是vEDS患者的主要担忧.
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