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

VernacularTitle: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
Author: Yirou WANG ; Qianwen ZHANG ; Yu DING ; Lei YIN ; Guoying CHANG ; Juan LI ; Jianmin WANG ; Jian WANG ; Xiumin WANG
From: Chinese Journal of Endocrinology and Metabolism 2021;37(4):288-292
CountryChina
Language:Chinese
Abstract: 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.