摘要
新生儿糖尿病和先天性高胰岛素血症发生的最常见的遗传原因是ABCC8和KCNJ11基因突变。这两种基因编码ATP敏感性钾(KATP)通道的SUR1亚单位与Kir6.2亚单位。KATP通道通过将糖代谢、电位活动与细胞分泌胰岛素联系起来,维持血糖稳定。这两种基因突变导致胰岛素分泌异常,失活突变可导致胰岛素过度分泌,造成高胰岛素血症;激活突变可导致胰岛素分泌过少,同时引发与高胰岛素血症相反的表型,即糖尿病。这篇综述主要从KCNJ11和ABCC8基因突变在糖尿病及先天性高胰岛素血症的作用机制、临床特征、治疗等方面进行介绍。
The most common genetic causes of neonatal diabetes and congenital hyperinsulinemia are mutations in the ABCC8 and KCNJ11 genes.These two genes encode SUR1 subunits and Kir6.2 subunits of ATP-sensitive Potassium(KATP)channels.The KATP channel keeps blood sugar stable by linking glucose metabolism,electrical activity,and insulin secretion.Mutations in these two genes lead to abnormal insulin secretion.Inactivation mutations can lead to excessive insulin secretion and hyperinsulinemia.The activation mutation can lead to too little insulin secretion and trigger the opposite phenotype of hyperinsulinemia,namely diabetes.This review mainly introduces the mechanism,clinical features and treatment of KCNJ11 and ABCC8 mutations in diabetes mellitus and congenital hyperinsulinemia.
作者
张明衬
刘冬
张晓鹏
宋媛媛
贾志义
ZHANG Ming-chen;LIU Dong;ZHANG Xiao-peng;SONG Yuan-yuan;JIA Zhi-yi(Department of Pediatrics,Zibo Central Hospital,Shandong 255022,China)
出处
《中国优生与遗传杂志》
2020年第4期399-402,共4页
Chinese Journal of Birth Health & Heredity
