儿童糖原累积症Ⅰb型合并克罗恩病2例分析

基础医学与临床 ›› 2021, Vol. 41 ›› Issue (3): 419-422.

儿童糖原累积症Ⅰb型合并克罗恩病2例分析

唐晓艳, 张玉, 李正红, 邱正庆^*

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

收稿日期:2020-10-28 修回日期:2020-12-25 出版日期:2021-03-05 发布日期:2021-03-01
通讯作者: ^*zhengqingqiu33@aliyun.com
基金资助:
国家重点研发计划(2016YFC0905102, 2016YFC0901500)

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

TANG Xiao-yan, ZHANG Yu, LI Zheng-hong, QIU Zheng-qing^*

Department of Pediatrics, Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730, China

Received:2020-10-28 Revised:2020-12-25 Online:2021-03-05 Published:2021-03-01
Contact: ^*zhengqingqiu33@aliyun.com

摘要/Abstract

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3～5 μg/(kg·d),维持中性粒细胞1.0×10⁹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1.0×10⁹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。

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

Abstract: 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 1.0×10⁹/L. The gastrointestinal symptoms got alleviated. 5-aminosalicylic acid agents were used as supportive treatment. Conclusions Evaluation 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.

Key words: glycogen storage disease type Ⅰb, Crohn's disease, granulocyte colony-stimulating factor, biologics

中图分类号:

唐晓艳, 张玉, 李正红, 邱正庆. 儿童糖原累积症Ⅰb型合并克罗恩病2例分析[J]. 基础医学与临床, 2021, 41(3): 419-422.

TANG Xiao-yan, ZHANG Yu, LI Zheng-hong, QIU Zheng-qing. Analysis of 2 cases of glycogen storage disease typeⅠb with Crohn's disease in children[J]. Basic & Clinical Medicine, 2021, 41(3): 419-422.

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