FOXP3基因突变致新生儿IPEX综合征的临床特点及分子遗传学分析  

Clinical features and molecular genetic analysis of immune dysregulation,poly endocrinopathy,enteropathy,X-linked syndrome(IPEX)caused by FOXP3 gene mutation

作　　者：林佳佳 赖淑华 修文龙[1] 欧阳夏 LIN Jiajia;LAI Shuhua;XIU Wenlong;OUYANG Xia(Department of Neonatology,Fujian Provincial Maternity and Children’s Hospital,Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350001,China)

机构地区：[1]福建省妇幼保健院/福建医科大学附属医院新生儿科,福建福州350001

出　　处：《中国优生与遗传杂志》2021年第10期1462-1465,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨FOXP3基因突变导致新生儿X-连锁多内分泌腺病、肠病伴免疫失调综合征(IPEX)的临床特征、治疗和预后以及分子遗传学特点。方法回顾性分析1例我院收治的新生儿IPEX病例的临床资料。收集FOXP3基因突变致IPEX的相关文献,筛选出新生儿期发病,且具备较完整资料病例。结果本例患儿FOXP3基因分析发现存在c.1190G>A突变,为国内首次报道。合并本例共74例新生儿IPEX病例,典型临床表现为肠病、1型糖尿病(TIDM)和皮炎“三联征”。本病预后差,病死率高,治疗措施主要包括支持替代治疗、免疫抑制剂及造血干细胞移植。结论对于出现慢性顽固性腹泻、1型糖尿病、湿疹等临床表现的新生儿需警惕IPEX,FOXP3基因测序可明确诊断。早期诊断、及时进行造血干细胞移植有助于改善预后。Objective To investigate the clinical features,treatment,prognosis and molecular genetic characteristics of immune dysregulation,poly endocrinopathy,enteropathy,X-linked syndrome(IPEX)caused by FOXP3 gene mutation in neonates.Methods This study reviewed the clinical data of a neonate with IPEX.Relevant literature was reviewed and the reported cases with relatively complete clinical data and results of gene mutation analysis were collected to summarize the clinical features and genomic mutations of the neonates with IPEX.Results A missense mutation(NM_014009:c.1190 G>A)of the FOXP3 gene was detected in the patient admitted to our hospital.This mutation has not been reported before in China.74 cases of neonatal IPEX were reviewed.The typical clinical manifestations of neonatal IPEX were“triad”of intestinal disease,type-1 diabetes mellitus(TIDM)and dermatitis.The mortality of IPEX is extremely high.Common treatment mainly include supportive therapy,alternative therapy,immunologic suppression(IS)and hematopoietic stem cell transplantation(HSCT).Conclusion IPEX should be considered in neonates with chronic intractable diarrhea,type 1 diabetes,eczema,etc.FOXP3 gene analysis may be helpful in diagnosis.Early diagnosis and timely hematopoietic stem cell transplantation may improve the prognosis.

关 键 词：X-连锁多内分泌腺病、肠病伴免疫失调综合征 FOXP3基因 突变 新生 

分 类 号：R722.1[医药卫生—儿科]