造血干细胞移植治疗以新生儿糖尿病起病的IPEX综合征:临床随访及文献复习  

Hematopoietic stem cell transplantation in the treatment of IPEX syndrome with neonatal diabetes: clinical follow-up and literature review

作　　者：王依柔 张倩文 丁宇[1] 殷蕾[2] 常国营[1] 李娟[1] 王坚敏[3] 王剑[4] 王秀敏[1] Wang Yirou;Zhang Qianwen;Ding Yu;Yin Lei;Chang Guoying;Li Juan;Wang Jianmin;Wang Jian;Wang Xiumin(Department of Endocrinology,Shanghai Children′s Medical Center,Shanghai 200217,China;Department of Nephrology,Shanghai Children′s Medical Center,Shanghai 200217,China;Department of Hematology and Oncology,Shanghai Children′s Medical Center,Shanghai 200217,China;Molecular Diagnosis Laboratory,Shanghai Children′s Medical Center,Shanghai 200217,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内分泌遗传代谢科,200217 [2]上海交通大学医学院附属上海儿童医学中心肾脏内科,200217 [3]上海交通大学医学院附属上海儿童医学中心血液肿瘤科,200217 [4]上海交通大学医学院附属上海儿童医学中心医学遗传科,200217

出　　处：《中华内分泌代谢杂志》2021年第4期288-292,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金(8190072);上海交通大学医工交叉基金(YG2016QN39)

摘　　要：收集并总结1例以糖尿病酮症酸中毒起病,遗传学检测明确为FOXP3突变的男性患儿的临床资料,分析经造血干细胞移植后18个月的随访结果和临床特点。患者男性,3岁5个月龄。5个月龄时因精神萎靡、呕吐症状就诊被诊断为糖尿病酮症酸中毒,继而出现严重腹泻、反复湿疹及肾病综合征,经遗传学检测明确为FOXP3基因突变引起的IPEX综合征。2018年8月于本院血液科行造血干细胞移植,术后随访18个月中,患者自身免疫受损状态得到改善,未再出现新的自身免疫性疾病,其血糖控制情况较移植前明显好转,胰岛素用量明显减少。The clinical data of a case of diabetic ketoacidosis with FOXP3 mutation identified by genetic test were collected and summarized.The follow-up results and clinical characteristics of 18 months after hematopoietic stem cell transplantation were analyzed.The male patient was 3 years and 5 months old.At the age of 5 months,the patient was diagnosed as diabetic ketoacidosis due to mental malaise and vomiting,followed by severe diarrhea,repeated eczema,and nephrotic syndrome,which was confirmed as IPEX syndrome due to FOXP3 gene mutation by genetic test.In August 2018,hematopoietic stem cell transplantation was carried out in the Hematology Department of our hospital.During 18 months of follow-up,the patients′autoimmune status was ameliorated,no new autoimmune diseases appeared,the blood glucose control was significantly improved,and the insulin dosage was significantly reduced.

关 键 词：FOXP3 新生儿糖尿病 IPEX综合征 造血干细胞移植 

分 类 号：R722.1[医药卫生—儿科] R457.7[医药卫生—临床医学]