儿童输血相关性移植物抗宿主病一例并文献复习  

Transfusion associated graft-versus-host disease of children: a case report and literature review

作　　者：章曼蘋 任宏[1] 罗长缨[1] 王坚敏 罗成娟 王剑[1] 陈静[1] 李璧如[1] Zhang Manpin;Ren Hong;Luo Changying;Wang Jianmin;Luo Chengjuan;Wang Jian;Chen Jing;Li Biru(Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medcine, Shanghai 200127, China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心,200127

出　　处：《国际输血及血液学杂志》2019年第5期407-412,共6页International Journal of Blood Transfusion and Hematology

摘　　要：目的探讨儿童输血相关性移植物抗宿主病(TA-GVHD)的临床特征。方法选择2017年7月31日,上海儿童医学中心收治的1例年龄为2个月的TA-GVHD男性患儿为研究对象。对患儿的临床病例资料进行回顾性分析,总结其临床特点。本研究对儿童TA-GVHD相关文献进行复习时,设定检索策略为:以"输血相关性移植物抗宿主病""transfusion associated graft-versus host disease"为中、英文关键词,分别对中国知网数据库、万方数据库和PubMed数据库建库至2017年12月,收录的儿童TA-GVHD相关文献进行检索。通过文献复习,总结儿童TA-GVHD的临床特点、诊断标准、治疗及预后。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。结果①本例患儿为男性,年龄为2个月,重症感染后重度贫血,输注未辐照红细胞后出现发热、皮疹、腹泻、直接胆红素升高、全血细胞减少。患儿口腔上皮组织和血液样本短串联重复序列(STR)-PCR检测结果显示,患儿口腔上皮组织和血液样本的STR基因型不同,患儿血液中存在供血者来源的细胞植入,确诊为TA-GVHD。患儿经免疫缺陷相关基因检测,最终确诊为X-连锁IL2RG基因缺陷所致的重症联合免疫缺陷病合并TA-GVHD。②本例患儿经积极的抗感染及免疫抑制治疗,仍然无效,于输血后31 d因脓毒血症和多器官功能衰竭而死亡。③文献复习结果显示,儿童TA-GVHD的基础疾病以新生儿疾病和重症联合免疫缺陷病为主,发热、皮疹、肝功能异常和血常规检测指标下降为其主要临床表现。结论TA-GVHD临床表现缺乏特异性,易被原发疾病的症状掩盖,发病率极低,而病死率极高。临床医师若对该病认识不足,则易出现漏诊,应引起足够重视。Objective To explore the clinical characteristics of transfusion associated graft-versus-host disease (TA-GVHD) of children. Methods On July 31, 2017, a 2-month-old male infant with TA-GVHD who was admitted to Shanghai Children′s Medical Center was selected as research subject into this study.Retrospective analysis was made on the clinical case data of the child and the clinical characteristics were summarized." Transfusion associated graft-versus host disease" in Chinese and English respectively were used as key words in order to retrieve literature from China National Knowledge Infrastructure Database and Wanfang Database, as well as PubMed Database from establishment of database to December 2017. The characteristics, diagnosis, treatment and prognosis of children with TA-GVHD were summarized by reviewing related literature. The procedures followed in this study were in accordance with the requirements of the World Medical Association Declaration of Helsinki revised in 2013. Results ① This infant was a 2-month-old boy. Because of severe anemia due to infection, he received a non-irradiated erythrocyte transfusion from an unrelated donor before diagnosis of severe combined immunodeficiency. After the last blood transfusion, he presented with the clinical manifestations of fever, rash, diarrhea, elevated direct bilirubin, and hypoproliferative pancytopenia. The results of short tandem repeats (STR)-PCR showed that the genotypes of STR in oral epithelial tissue and blood samples were different, which suggested that there was a donor-derived cell implantation in the blood of the infant, and he was diagnosed as TA-GVHD. Through the results of immunodeficiency-related genes detection, the infant was finally diagnosed as severe combined immunodeficiency disease with TA-GVHD caused by X-linked IL2RG gene deficiency.② Despite the active anti-infective and immunosuppressive therapy, the TA-GVHD infant died of sepsis and multiple organ failure 31 days after transfusion finally.③ Literature review results indicated

关 键 词：输血 移植物抗宿主病 婴儿 新生 儿童 重症联合免疫缺陷病 Γ辐照 

分 类 号：R725.9[医药卫生—儿科] R457.1[医药卫生—临床医学]