Neonatal congenital hyperinsulinism：one case report and literature review

VernacularTitle:新生儿先天性高胰岛素血症1例报告并文献复习
Author: Lin YANG ; Xiaoyan YANG ; Jing SHI ; Ying XIONG
Publication Type:Journal Article
Keywords: congenital hyperinsulinism; gene mutation; neonate
From: Journal of Clinical Pediatrics 2016;34(3):188-191
CountryChina
Language:Chinese
Abstract: 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 conifrmed 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.