关键词: 先天性高胰岛素血症；　基因；　新生儿

Abstract: Objective　To explore the pathogenesis, clinical features, gene diagnosis and treatment of neonatal congenital hyperinsulinemia (CHI). Methods　The clinical data of CHI in 3 neonates were analyzed retrospectively, and the related literature was reviewed. Results　Three male neonates had recurrent hypoglycemia within 15 minutes to 1 hour after birth. Whole exon gene testing was performed in 2 neonates, and the heterozygous mutation of ABCC8 gene was found, while KCNJ11 gene was tested in 1 neonate and no mutation was found. In all 3 patients diazoxide treatment were effective. The blood glucose was normal at the telephone follow-up one month after discharge. According to the literature, 11 genes including ABCC8, KCNJ11, GLUD1, GCK, HADH, UCP2, SLC16A1, HNF4A, HNF1A, HK1, and PGM1 were related to CHI. The clinical manifestations, drug response and prognosis of different genotypes were significantly different. Conclusion　CHI is a single gene genetic disease, and gene detection is helpful for the diagnosis and treatment.

Key words: congenital hyperinsulinemia;　gene;　newborn