目的　探讨新生儿先天性高胰岛素血症（CHI）发病机制、临床特征、基因诊断和治疗。方法　回顾分析3例 CHI新生儿的临床资料，并复习相关文献。结果　3例男性患儿分别在出生后15分钟至1小时内出现反复低血糖。 2例患儿 行全外显子基因检测，发现ABCC8基因杂合突变， 1例行KCNJ11基因检测未发现变异。 3例患儿均对二氮嗪治疗有效，出 院1个月后电话随访血糖正常。检索文献，11种基因ABCC8、KCNJ11、GLUD1、GCK、HADH、UCP2、SLC16A1、HNF4A、 HNF1A、HK1和PGM1变异与CHI相关。不同基因型的临床表现、药物反应及预后有显著差异。结论　CHI是一种单基因 遗传病，基因检测有助诊断和治疗。

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.