儿童糖原累积症Ⅰb型合并克罗恩病2例分析  

Analysis of 2 cases of glycogen storage disease typeⅠb with Crohn's disease in children

作　　者：唐晓艳[1] 张玉[1] 李正红[1] 邱正庆[1] TANG Xiao-yan;ZHANG Yu;LI Zheng-hong;QIU Zheng-qing(Department of Pediatrics, Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730, China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院儿科,北京100730

出　　处：《基础医学与临床》2021年第3期419-422,共4页Basic and Clinical Medicine

基　　金：国家重点研发计划(2016YFC0905102,2016YFC0901500)。

摘　　要：目的总结儿童糖原累积症Ⅰb型(GSDⅠb)合并克罗恩病(CD)的临床特点,以提高对该病的认识。方法回顾性分析北京协和医院儿科病房收治的2例儿童GSDⅠb合并CD病例,总结临床特征、实验室检查、消化内镜检查表现、治疗过程和随访效果。结果2例诊断为GSDⅠb合并CD的患儿纳入研究,1例女孩,7岁;1例男孩,17岁,2例均为2岁基因确诊诊断GSDⅠb。分别在4岁、5岁出现消化系统症状,主要表现为腹泻、腹痛,最终经内镜和病理检查明确诊断为CD。除生玉米淀粉治疗维持血糖平稳外,均定期皮下注射粒细胞集落刺激因子(G-CSF),剂量为3~5μg/(kg·d),维持中性粒细胞1.0×10^(9)个/L以上,消化系统症状好转。5-氨基水杨酸(5-ASA)作为辅助治疗。结论对GSDⅠb型儿童出现腹痛、腹泻时完善消化系统评估,警惕克罗恩病肠道病变。G-CSF是主要治疗方法,相对低剂量可维持中性粒细胞1.0×10^(9)个/L以上,定期监测有无脾脏增大。5-ASA使用过程中应注意肾功能的监测。Objective To investigate the clinical characteristics of glycogen storage disease typeⅠb(GSDⅠb)with Crohn's Disease(CD)and to improve the recognition of the disease.Methods Retrospectively analyze the clinical characteristics of 2 cases diagnosed with the GSDⅠb and CD in the pediatric department of Peking Union Medical College Hospital.Results A boy and a girl were included in the study.They were genetically diagnosed as GSDⅠb at 2 years age.Gastrointestinal symptoms including abdominal pain and diarrhea were observed at 4,5 years old respectively.They were diagnosed as CD with endoscopic characteristics and pathology results.Besides corn starch,granulocyte colony-stimulating factor(G-CSF)was used to elevate the neutrophil to above 1.0×10^(9)/L.The gastrointestinal symptoms got alleviated.5-aminosalicylic acid agents were used as supportive treatment.ConclusionsEvaluation of the gastrointestinal system is necessary as the abdominal pain or diarrhea were observed in GSDⅠb patients.G-CSF with a relatively low dose is the mainstay to elevate neutrophil with few side effects.Splenomegaly is the most common side effect.Monitor renal function is necessary in the use of 5-ASA.

关 键 词：糖原累积症Ib型 克罗恩病 粒细胞集落刺激因子 生物制剂 

分 类 号：R34[医药卫生—基础医学]