目的 探讨先天性高胰岛素血症（CHI）临床特征及基因突变。方法 回顾性分析1例CHI新生儿的临床资料并复习相关文献。结果 患儿因生后反复低血糖，于出生24 d 入院，基因检测提示ABCC8单一杂合突变位点，确诊CHI。二氮嗪试验性治疗有效，随访血糖正常。结论 尽早完善基因检查有助于早期诊断CHI，且能指导CHI的远期临床管理。

Objective To study the clinical features and gene mutation of congenital hyperinsulinism (CHI). Methods Clinical data of one newborn infant with CHI were retrospectively analyzed, and relevant literatures were reviewed. Results The infant was admitted at 24 days after birth due to recurrent hypoglycemia. Genetic examination revealed the single heterozygous mutation on ABCC8, which confirmed the diagnosis of CHI. Experimental treatment of Diazoxide was effective. The blood glucose was normal in the follow up. Conclusions The improvement of genetic testing at the soonest can not only helps early diagnosis of CHI, but also guides the long-term clinical management of CHI.