摘要
目的探讨Ehlers-Danlos综合征(EDS)消化系统受累患者的临床和遗传学特征。方法通过电子病案收集北京协和医院2003年1月至2023年9月有消化系统受累的EDS患者资料,于PubMed、Embase、Web of Science、the Cocharane Library数据库检索2000年1月至2023年9月发表的有消化道受累的EDS病例,一并进行系统回顾和分析。结果本中心5例EDS消化系统受累患者,数据库检索出80篇文献涉及89例EDS消化系统受累患者,共94例纳入分析。患者诊断EDS的平均年龄为(29±14)岁。消化系统受累的表现依次为消化道穿孔(n=46,48.9%)、功能性胃肠道症状(n=33,35.1%)和消化系动脉病变(n=10,10.6%)。EDS消化系统受累患者中,最常见的临床亚型为血管型(vEDS)(n=50,53.2%),其次为关节过度活动型(hEDS)(n=20,21.3%),最常见的突变基因为COL3A1基因(n=30,31.9%)。vEDS患者中,消化系统受累表现分别为消化道穿孔(n=33,66.0%)、动脉病变(n=9,18.0%)和功能性胃肠道症状(n=7,14.0%)。hEDS患者中,消化系统受累表现分别为功能性胃肠道症状(n=18,90.0%)、内脏脱垂(n=3,15.0%)和肠扭转(n=1,5.0%)。结论EDS消化系统受累主要见于vEDS和hEDS两种亚型,vEDS以消化道穿孔、消化系动脉病变为主,而hEDS多表现为功能性胃肠道症状。
Objective To explore the clinical and genetic characteristics of patients with Ehlers-Danlos syndrome(EDS)and gastrointestinal involvement.Methods We retrospectively collected the clinical data of patients with EDS and gastrointestinal involvement from the electronic medical records at Peking Union Medical College Hospital(PUMCH)from January 2003 to September 2023.Additionally,we conducted a systematic review by searching cases with EDS and gastrointestinal involvement in PubMed,Embase,Web of Science,and the Cochrane Library databases from January 2000 to September 2023.Results Ninety-four patients with EDS and gastrointestinal involvement were retrieved,including five patients from PUMCH and 89 patients from 80 published articles.The average age of patients was(29±14)years.The most common manifestation of gastrointestinal involvement was gastrointestinal perforation(n=46,48.9%),followed by functional gastrointestinal symptoms(n=33,35.1%),and digestive arterial disorders(n=10,10.6%).The most common clinical subtype was vascular-EDS(vEDS)(n=50,53.2%)followed by hypermobile-EDS(hEDS)(n=20,21.3%).The most frequent genetic mutation occurred in the COL3A1 gene(n=30,31.9%).Among patients with vEDS,gastrointestinal manifestations included gastrointestinal perforation(n=33,66.0%),arterial lesions(n=9,18.0%),and functional gastrointestinal symptoms(n=7,14.0%).Among patients with hEDS,gastrointestinal manifestations included functional gastrointestinal symptoms(n=18,90.0%),visceral prolapse(n=3,15.0%)and intestinal volvulus(n=1,5.0%).Conclusions The most common subtypes of gastrointestinal involvement in EDS were vEDS and hEDS.Patients with hEDS mainly presented with functional gastrointestinal symptoms,whereas those with vEDS primarily showed gastrointestinal perforation and digestive arterial disorders.
作者
邵宇培
潘思琪
李玥
李骥
李晓青
Shao Yupei;Pan Siqi;Li Yue;Li Ji;Li Xiaoqing(Department of Gastroenterology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Pulmonary and Critical Care Medicine,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)
出处
《中华内科杂志》
CAS
CSCD
北大核心
2024年第10期987-992,共6页
Chinese Journal of Internal Medicine
基金
中国医学科学院医学与健康科技创新工程项目(CIFMS 2021-I2M-1-003)。