机构：[1]Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China临床科室职能科室临床流行病与循证医学中心内分泌科首都医科大学附属北京儿童医院[2]Department of Children Health Care, Xiamen Maternal and Child Health Hospital, Xiamen, China[3]Department of Surgical Oncology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China临床科室职能科室临床流行病与循证医学中心肿瘤外科首都医科大学附属北京儿童医院
This study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children's Hospital from January 2014 to August 2017, and their families, were selected as subjects. The CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology. Furthermore, the genetic pathogenesis and clinical characteristics of Chinese children with CHI were explored. Among the 60 CHI children, 27 children (27/60, 45%) carried known CHI-related gene mutations: 16 children (26.7%) carried ABCC8 gene mutations, seven children (11.7%) carried GLUD1 gene mutations, one child carried GCK gene mutations, two children carried HNF4 alpha gene mutations and one child carried HADH gene mutations. In these 60 patients, eight patients underwent 18F-L-DOPA PET scan for the pancreas, and five children were found to be focal type. The treatment of diazoxide was ineffective in these five patients, and hypoglycemia could be controlled after receiving partial pancreatectomy. In conclusion, ABCC8 gene mutation is the most common cause of CHI in Chinese children. The early genetic analysis of children's families has an important guiding significance for treatment planning and prognosis assessment.
基金：
This work was supported by Beijing Municipal Science & Technology Commission, No. Z141107002514142. Clinical trial registration number: ChiCTR1800016089.
第一作者机构：[1]Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
通讯作者：
通讯机构：[1]Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
推荐引用方式(GB/T 7714)：
Xu Zi-Di,Zhang Wei,Liu Min,et al.Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia[J].ENDOCRINE CONNECTIONS.2018,7(12):1251-1261.doi:10.1530/EC-18-0240.
APA：
Xu, Zi-Di,Zhang, Wei,Liu, Min,Wang, Huan-Min,Hui, Pei-Pei...&Ni, Gui-Chen.(2018).Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.ENDOCRINE CONNECTIONS,7,(12)
MLA：
Xu, Zi-Di,et al."Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia".ENDOCRINE CONNECTIONS 7..12(2018):1251-1261
