糖原贮积症Ⅰb型合并克罗恩病三例报道并文献复习

Glycogen storage disease type Ib with Crohn′s disease: three cases report and literature review

目的总结糖原贮积症Ⅰb型合并克罗恩病的临床特征。方法回顾性分析2019年2月至2021年3月广州市妇女儿童医疗中心收治的3例糖原贮积症Ⅰb型合并克罗恩病患儿的临床特征及诊治过程, 并以"tumor necrosis factor α"、"glycogen storage disease type Ib"、"Crohn′s disease"、"肿瘤坏死因子α"、"糖原贮积症Ⅰb型"、"克罗恩病"为检索词, 检索PubMed、Web of Science、Embase、中国知网、万方数据库自2002年1月至2021年9月的文献, 进行相关文献复习总结。结果纳入3例糖原贮积症Ⅰb型合并克罗恩病患儿, 年龄6 ~ 9岁, 男性1例, 女性2例;3例内镜特征为病变主要累及回盲部和结肠, 以溃疡和增生为主, 使用英夫利西单克隆抗体治疗后好转, 症状明显改善。儿童克罗恩病活动指数均下降。共检索到8篇相关报道。结论糖原贮积病Ⅰb型可合并克罗恩病, 需要临床医生及时鉴别。

Objective To summarize the clinical features of glycogen storage disease typeⅠb with Crohn′s disease.Methods The clinical characteristics,diagnosis and treatment of 3 patients with glycogen storage disease typeⅠb with Crohn′s disease treated in Guangzhou Women and Children′s Medical Center from February 2019 to March 2021 were analyzed retrospectively."tumor necrosis factorα","glycogen storage disease typeⅠb","Crohn′s disease"were used as retrieval words to search associated literatures from PubMed,Web of Science,Embase,CNKI and Wanfang database from January 2002 to September 2021.Relevant literatures were reviewed and summarized.Results These 3 patients with glycogen storage disease typeⅠb with Crohn′s disease were 6~9 years old,including 1 male and 2 females.The endoscopic features of 3 patients were that the lesions mainly involved the ileocecum and colon,most of them as ulceration and hyperplasia.After treatment of infliximab,the symptoms improved significantly,and the pediatric Crohn′s disease activity index decreased.A total of 8 related reports were retrieved.Conclusion Glycogen storage disease typeⅠb may be complicated with Crohn′s disease,which needs to be identified by clinicians in time.