一例晚发X-连锁多内分泌腺病肠病伴免疫失调综合征患儿的临床及遗传学研究  

Clinical features and genetic analysis of a child with late-onset immune dysregulation,polyendocrinopathy,enteropathy,X-Linked syndrome

作　　者：周方 王瑞锋 于志丹 李素丽[1] 李小芹 Zhou Fang;Wang Ruifeng;Yu Zhidan;Li Suli;Li Xiaoqin(Department of Digestion,Children’s Hospital Affiliated to Zhengzhou University,Henan Provinicial Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou,Henan 450053,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院消化科,450053

出　　处：《中华医学遗传学杂志》2021年第3期255-259,共5页Chinese Journal of Medical Genetics

基　　金：河南省医学科技攻关项目(201702324)。

摘　　要：目的探讨1例晚发X-连锁多内分泌腺病肠病伴免疫失调综合征(immune dysregulation,polyendocrinopathy,enteropathy,X-linked syndrome,IPEX)患儿的临床特点、基因变异情况。方法分析1例IPEX综合征患儿的临床资料、实验室检查、基因变异位点及治疗情况。结果患儿为男性,3岁因顽固性腹泻、反复感染、肝功能不全、生长发育迟缓就诊,不伴糖尿病和皮肤疾病。实验室检查显示肝酶和总IgE升高、白蛋白降低及电解质紊乱;胃肠镜检查发现十二指肠黏膜糜烂和细颗粒样改变,回肠末端和结肠黏膜水肿,活检示十二指肠和回肠末端绒毛萎缩。基因检测发现,FOXP3基因第10外显子编码区存在1个c.1087A>G错义变异,导致氨基酸p.I363V改变。结论IPEX综合征通常在婴儿期起病,但临床表现多样,不应仅根据年龄排除诊断。对于患有难治性腹泻、自身免疫性疾病和生长迟缓的男性患儿,需警惕IPEX综合征,基因检测分析有利于早期诊断及治疗。Objective To report on the clinical features and genetic testing for a child featuring immune dysregulation,polyendocrinopathy,enteropathy,X-linked(IPEX)syndrome.Methods Clinical records,genetic testing,laboratory investigation and treatment of the child were summarized,in addition with a comprehensive review of the literature.Results The 3-year-old boy was administered due to intractable diarrhea,recurrent infections,liver dysfunction and failure to thrive,though no diabetes or skin disorder was observed.Laboratory testing showed elevated liver enzymes and total IgE,decreased albumin and electrolyte imbalance.Gastrointestinal endoscopy revealed erosion and granules in the duodenum,and edema in the terminal ileum and colon.Biopsies showed villous atrophy in the duodenum and terminal ileum.Genetic testing revealed that the patient has carried a missense c.1087A>G(p.I363V)variant in the exon 10 of the FOXP3 gene.He was treated with enteral and parenteral nutrition,anti infection and Sirolimus,and is waiting for hemopoietic stem cell transplantation.Conclusion Although IPEX syndrome usually occur during infancy,it should not be ruled out solely based on the age,and its presentation can be very variable.For male child with refractory diarrhea,autoimmune disorder and growth retardation,the diagnosis should be suspected and confirmed by genetic testing.

关 键 词：X-连锁多内分泌腺病肠病伴免疫失调综合征 FOXP3变异 免疫缺陷 晚发 腹泻 

分 类 号：R725.9[医药卫生—儿科]