摘要
分析住院治疗的1例IPEX综合征(immune dysregulation polyendocrinopathy enteropathy X-linked syndrome)并发肠源性脓毒症患儿的临床表现、辅助检查及诊疗经过程,并进行相关文献复习。要提高对IPEX综合征并发肠源性脓毒症的认知及重视程度,对于患儿尤其是婴幼儿的特殊疾病表现,如早发顽固性腹泻、多发内分泌病、自身免疫现象,全身炎症反应综合征及生长落后,可考虑进行全身对症治疗结合免疫系统疾病基因检测诊断,选择基因治疗或同种异体造血干细胞移植等有效正规治疗,帮助其获得长期生存概率。
In the study,a child patient with immune dysregulation polyendocrinopathy enteropathy X-linked(IPEX)syndrome concurrent with gut-origin sepsis who was admitted to our hospital was selected,we analyzed in detail the clinical manifestations,auxiliary examinations,diagnosis and treatment of his and reviewed related literature.This result shows that it is necessary to increase the awareness and attention of IPEX syndrome concurrent with gut-origin sepsis,and for children,especially infants,with special disease manifestations,such as early refractory diarrhea,multiple endocrine diseases,autoimmune phenomena,systemic inflammatory response syndrome as well as growth retardation.We may conside genetic testing for systemic immune system diseases while symptomatic treatment;effective regular treatment options such as gene therapy or allogeneic hematopoietic stem cell transplantation are helpful in achieving long-term survival.
作者
Eamran Hossain
田亚
陈源
张少丹
张会丰
Eamran Hossain;Tian Ya;Chen Yuan;Zhang Shaodan;Zhang Huifeng(Department of Pediatrics, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, China)
出处
《临床荟萃》
CAS
2021年第5期453-457,共5页
Clinical Focus
作者简介
通讯作者:张会丰,Email:2378122844@qq.com。
