己糖激酶基因突变相关的先天性高胰岛素血症一例并文献复习

目的分析一例中国己糖激酶型高胰岛素血症(HK1-HI)患儿的临床特征及基因突变。方法分别抽取患儿及父母亲乙二胺四乙酸钠抗凝血提取基因组DNA,行全外显子测序分析,对明确或可能与受检者临床表型相关的基因变异采用Sanger测序进行验证。结果患儿于生后5个月起病,二氮嗪治疗有效,组织学分型为弥漫型。HK1基因第12外显子区有一个c.886 C>A(p.L296M)杂合突变,使编码产物的第296位由亮氨酸(Leu,L)变为甲硫氨酸(Met,M),为父系遗传。结论中国儿童中父系遗传的HK1基因外显子区突变,可能会导致HK1-HI的发生,该型起病较早,多对二氮嗪有效,组织学类型多为弥漫型。

Congenital hyperinsulinemia associated with hexokinase gene mutation and literature review

Objective Analyse the clinical features and gene mutations of a child with HK1-HI.Methods The children and their parents ethylenediamine traacetic acid anticoagulated 3 ml were taken separately for gene sequencing analysis.Genetic variation related to clinical phenotypes that are clear or likely to be relevant to the subject is verified by Sanger sequencing.Results This child started from 5 months after birth.Effective for diazoxide treatment.Her pancreatic scan results showed that the histological classification of the child was diffuse.A c.886 C>A(p.L296M)heterozygous mutation was found in the 12th exon of the HK1 gene,which changed the amino acid 296 of the encoded product from leucine(Leu,L)to A.Thionine(Met,M).This mutation was paternal inheritance.Conclusion Mutations in the paternal inherited HK1 gene in Chinese children may lead to the occurrence of HK1-HI.This type of CHI has an earlier onset and shows effectiveness to diazoxide.Most of his histological types are diffuse.