白细胞介素10信号通路缺陷引起极早发型炎症性肠病发病机制及治疗的研究进展  

Progress in the pathogenesis and treatment of very early-onset inflammatory bowel disease caused by deficiency of interleukin-10 signaling pathway

作　　者：吴天昊 张姮 方拥军[1] Wu Tianhao;Zhang Heng;Fang Yongjun(Department of Hematology and Oncology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院血液肿瘤科,南京210008

出　　处：《中华实用儿科临床杂志》2024年第3期228-231,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：江苏省自然科学基金青年基金(BK20220197)。

摘　　要：儿童极早发型炎症性肠病(VEO-IBD)是指发病年龄<6岁,以反复结肠炎、肛周病变及营养吸收障碍为主要临床表现的炎症性肠病(IBD)。不同于成人,单一基因突变在VEO-IBD发病中起重要作用。迄今为止,已发现约70种单基因缺陷参与VEO-IBD的发病机制,包括上皮屏障、中性粒细胞和吞噬细胞的功能、免疫细胞的选择和激活、免疫抑制机制或凋亡。白细胞介素10(IL-10)是一种抗炎细胞因子,参与调节先天性和适应性免疫,影响促炎分子的表达和多种免疫细胞的功能,在IBD的发生与发展进程中发挥重要作用,大多数IL-10信号通路缺陷(IL-10或IL-10受体缺陷)的患者会在儿童时期就表现出威胁生命的结肠炎。现就IL-10信号通路缺陷引起VEO-IBD的发病机制和治疗方式的研究进展进行综述。Very early onset inflammatory bowel disease(VEO-IBD)in children refers to an IBD with the onset age of less than 6 years old,clinically characterized by recurrent colitis,perianal lesions,and nutrient absorption disorders.Different from adults,single gene mutation plays an important role in the pathogenesis of VEO-IBD.To date,about 70 single gene defects have been identified involving the pathogenesis of VEO-IBD,including epithelial barrier,neutrophil and phagocyte function,immune cell selection and activation,immunosuppressive mechanism,or apoptosis.Interleukin-10(IL-10)is an anti-inflammatory cytokine that regulates innate and adaptive immunity,influences the expression of pro-inflammatory molecules and the function of multiple immune cells,and plays a vital role in the development and progression of IBD.Patients with defects in the IL-10 signaling pathway(IL-10 or IL-10 receptor deficiency)may develop life-threatening colitis as early as childhood.This article reviews the progress in the pathogenesis and treatment of VEO-IBD caused by IL-10 signaling pathway defects.

关 键 词：白细胞介素10 极早发型炎症性肠病 单基因疾病 免疫 治疗 

分 类 号：R725.7[医药卫生—儿科]