11例糖代谢异常患儿的遗传病因分析及诊治方案  

Genetic etiology analysis and plans of diagnosis and treatment for 11 children with abnormal glucose metabolism

作　　者：韦小娇 谢波波 范歆 韦冰梅[4] 桂宝恒 陈玉君 Wei Xiaojiao;Xie Bobo;Fan Xin;Wei Bingmei;Gui Baoheng;Chen Yujun(The Second Clinical Medical College of Guangxi Medical University,Nanning 530007,China;Center for Genetics and Genomics,The Second Affiliated Hospital of Guangxi Medical University,Nanning 530007,China;Key Laboratory of Medical Genetics and Genomics,Guangxi Health Commission,Nanning 530007,China;Department of Pediatrics,The Second Affiliated Hospital of Guangxi Medical University,Nanning 530007,China)

机构地区：[1]广西医科大学第二临床医学院,南宁530007 [2]广西医科大学第二附属医院遗传与基因组医学中心,南宁530007 [3]广西卫健委医学遗传与基因组学研究重点实验室,南宁530007 [4]广西医科大学第二附属医院儿科,南宁530007

出　　处：《广西医科大学学报》2023年第6期1026-1032,共7页Journal of Guangxi Medical University

基　　金：国家自然科学基金资助项目(No.82160315);广西自然科学基金资助项目(No.2021GXNSFAA196047);广西研究生教育创新计划项目(No.YCSW2022213)。

摘　　要：目的:探讨遗传学病因分析在糖代谢异常患儿诊治中的作用。方法:回顾性分析2019年10月至2022年10月广西医科大学第二附属医院儿科收治的11例糖代谢异常患儿的临床表现、遗传病因及诊治方案。结果:11例糖代谢异常患儿中,5例高胰岛素血症(CHI),6例糖尿病。5例CHI患儿中有3例检出基因变异,其中2例分别检出ABCC8基因c.3976G>A和FOXA2基因c.428A>G杂合变异,经治疗,血糖恢复至正常范围;1例检出KCNJ11基因c.560C>A杂合变异,需要长期二氮嗪维持治疗;5例CHI均对二氮嗪治疗敏感。6例糖尿病患儿中有2例分别检出HNF1A基因c.475C>T和KCNJ11基因c.601C>T杂合变异。所有患儿初诊后均应用胰岛素治疗,检出KCNJ11基因变异的患者改用格列本脲治疗,所有患儿血糖控制良好。结论:遗传因素是导致儿童糖代谢异常的重要原因之一。对糖代谢异常儿童行基因检测以鉴定遗传学病因,对疾病的分子分型、针对性治疗、全程管理及预后改善均有重要意义。Objective:To explore the role of genetic etiology analysis in the diagnosis and treatment of children with abnormal glucose metabolism.Methods:The clinical manifestations,genetic etiology and plans of diagnosis and treatment for 11 children with abnormal glucose metabolism admitted to the Department of Pediatrics of the Second Affiliated Hospital of Guangxi Medical University from October 2019 to October 2022 were retrospectively analyzed.Results:Among the 11 children with abnormal glucose metabolism,5 were diagnosed with hyperinsulinemia(CHI)and 6 with diabetes.Gene variants were identified in 3 out of 5 cases with CHI.Among them,2 cases showed heterozygous variant in ABCC8(c.3976G>A)and in FOXA2(c.428A>G),and their blood glucose levels recovered to the normal range after treatment.A heterozygous variant in KCNJ11(c.560C>A)was detected in 1 case,requiring long-term treatment with diazoxide.All of the 5 cases with CHI were sensitive to diazoxide.Furthermore,heterozygous variants in HNF1A(c.475C>T)and in KCNJ11(c.601C>T)were detected in 2 out of 6 cases with diabetes,respectively.All of the cases with diabetes were treated with insulin based on initial diagnosis.However,the case with KCNJ11 variant was treated with glibenclamide instead of insulin and all the cases with diabetes were achieving good blood glucose control.Conclusion:Genetic factors are one of the important causes of abnormal glucose metabolism in children.The genetic screening for children with abnormal glucose metabolism to identify their genetic etiology is of great significance for the molecular classification,targeted treatment,end-toend management and improved prognosis of the disease.

关 键 词：糖尿病 先天性高胰岛素血症 遗传学病因 

分 类 号：R725.8[医药卫生—儿科]