原发性免疫缺陷病:从消化系统病症开始认识  

Primary immunodeficiency:Starting from digestive system disease

作　　者：胡坚[1] HU Jian(Tianjin Children's Hospital Children's Hospital of Tianjin University,Tianjin 300074,China)

机构地区：[1]天津市儿童医院(天津大学儿童医院),天津300074

出　　处：《中国实用儿科杂志》2021年第7期481-484,502,共5页Chinese Journal of Practical Pediatrics

摘　　要：逾400种临床症状,约350个明确突变的原发性免疫缺陷病(PID),多样的胃肠病综合征本不足为奇。诊断潜在PID患儿不尽相同的胃肠症状表现时,既要比较PID与非PID患者之间的表现,又要考虑PID谱系病变之间的差异,即使那些有相同基因诊断的患者也是如此。5%~50%的PID患者有胃肠病,涉及过敏、感染、自身免疫与炎症、急慢性腹泻、结构性疾病或肿瘤、吸收不良、腹痛和炎症性肠疾病,都可能表明免疫障碍,又具备PID固有特征。胃肠病治疗无反应时,应对免疫功能丧失做出评价。With more than 400 clinical symptoms and about 350 well-defined mutations in PID,it is no surprise that there is a wide variety of gastrointestinal syndromes(GI).However,diagnosing the different GI of children with potential PID,we must not only compare the performance of PID or non-PID patients with GI,but also consider the difference among PID spectrum lesions,even in the patients with the same genetic diagnosis.About 5%to 50%of PID patients have gastrointestinal problems,including allergies,infections,autoimmune or auto-inflammatory disorders,chronic or acute diarrhea,structural disease or tumor,malabsorption,abdominal pain,and inflammatory bowel disease,all of which may indicate immune disorders with the inherent characteristics of PID.Failure of GI syndromes to respond to conventional treatment calls for an evaluation of possible immunodeficiency.

关 键 词：原发性免疫缺陷病 出生免疫错误 胃肠病 儿童 

分 类 号：R72[医药卫生—儿科]