脐血干细胞移植成功治疗早发IPEX综合征1例报告并文献复习  

Successful treatment of a case of premature IPEX syndrome with umbilical cord blood stem cell transplantation and literature review

作　　者：许普 钱晓文[2] 翟晓文[2] 王来栓 XU Pu;QIAN Xiaowen;ZHAI Xiaowen;WANG Laishuan(Department of Neonatology,Children's Hospital of Fudan University,National Children’s Medical Center,Shanghai 201102,China;Department of Blood Transplant Center,Children's Hospital of Fudan University,National Children’s Medical Center,Shanghai 201102,China)

机构地区：[1]国家卫健委新生儿疾病重点实验室,国家儿童医学中心/复旦大学附属儿科医院新生儿科,上海201102 [2]国家卫健委新生儿疾病重点实验室,国家儿童医学中心/复旦大学附属儿科医院血液移植中心,上海201102

出　　处：《临床儿科杂志》2023年第2期140-145,共6页Journal of Clinical Pediatrics

摘　　要：X连锁多内分泌腺病肠病伴免疫失调综合征(IPEX)是一种由FOXP3基因变异引起的原发性免疫缺陷病,典型表现包括严重肠病、1型糖尿病和湿疹三联征。患儿,男,以糖尿病、顽固性腹泻、湿疹、反复感染起病,经遗传学检测确诊为FOXP3基因变异引起的IPEX综合征,最终经脐血干细胞移植治疗,患儿自身免疫症状得到改善。对早发糖尿病、顽固性腹泻及湿疹婴幼儿,应考虑IPEX综合征可能并进行遗传学检测,早期造血干细胞移植可阻止大多数患儿的疾病进展和并发症的发生,提高患儿生存率。The X-linked polyendocrine adenopathy enteropathy with immune disorder syndrome(IPEX) is a primary immunodeficiency disease caused by a variant of the FOXP3 gene, typically presenting with a triad of severe enteropathy, type 1 diabetes mellitus and eczema. The child, a male, started with diabetes, intractable diarrhea, eczema,and recurrent infections, and was diagnosed with IPEX syndrome caused by FOXP 3 gene variant by genetic testing,and was eventually treated with umbilical cord blood stem cell transplantation, which improved the child’s autoimmune symptoms. In infants with early onset diabetes, intractable diarrhea and eczema, IPEX syndrome should be considered,and genetic testing should be performed. Early hematopoietic stem cell transplantation can prevent disease progression and complications in most children and improve their survival rate.

关 键 词：X连锁多内分泌腺病肠病伴免疫失调综合征 糖尿病 腹泻 湿疹 造血干细胞移植 

分 类 号：R725.9[医药卫生—儿科]