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

• 临床研究 • 上一篇    下一篇

儿童糖原累积症Ib型合并克罗恩病2例分析

唐晓艳1,张玉2,李正红3,邱正庆4   

  1. 1. 中国医学科学院 北京协和医院
    2. 北京协和医院 儿科
    3. 中国医学科学院 北京协和医院儿科
    4. 中国医学科学院 北京协和医学院 北京协和医院 儿科
  • 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: 邱正庆 E-mail:zhengqingqiu33@aliyun.com
  • 基金资助:
    本研究为国家重点研发计划资助项目;国家重点研发计划资助项目

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

  • Received:2020-10-28 Revised:2020-12-25 Online:2021-03-05 Published:2021-03-01

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患儿纳入研究,1例女孩,7岁,1例男孩,17岁,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(Granulocyte colony-stimulating factor,G-CSF),剂量为3~5mcg/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 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 There were a boy and a girl in the study. They were genetically diagnosed as GSDⅠb at 2 years old. 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. Conclusion 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 Ib, Crohn’s disease, granulocyte colony-stimulating factor, biologics