摘要
目的 总结56例先天性高胰岛素血症（CHI）患儿的临床资料和基因突变情况，为CHI临床诊疗方案的确立提供理论依据。方法 选取首都医科大学附属北京儿童医院2002年2月至2016年1月收治的56例CHI患儿及其家系为研究对象，回顾性分析患儿的围生期情况、临床表现、相关辅助检查以及治疗、预后等临床资料，并应用PCR-DNA直接测序技术或二代测序技术对CHI相关致病基因进行测序分析。结果 56例患儿中，30例携带CHI已知致病基因。（1）23/56例（41.0%）患儿携带ABCC8和/或KCNJ11基因突变：携带复合杂合突变者4例，同时携带ABCC8和KCNJ11基因突变者1例，携带ABCC8母系遗传突变者1例，携带ABCC8父系遗传突变者12例，携带KCNJ11父系遗传突变者有1例，携带ABCC8新生突变者3例，遗传方式未明者1例。19例应用二氮嗪进行治疗，其中2例有效，7例无效，10例疗效待明确。（2）5/56例（8.9%）患儿携带GLUD1基因突变：其中4例曾应用二氮嗪进行治疗，均有效。（3）1/56例（1.7%）患儿携带GCK基因突变，为新生突变，对二氮嗪治疗有效。（4）1/56例（1.7%）患儿携带SLC16A1基因突变，为母系遗传，对二氮嗪治疗有效。结论 ABCC8基因突变和GLUD1基因突变是CHI的主要致病基因，GCK和SLC16A1基因突变所致CHI为罕见类型。多数ABCC8基因突变和KCNJ11基因突变对二氮嗪治疗无效。
Objective To analyze the clinical characteristics and gene mutations of 56 patients with congenital hyperinsulinism（CHI） and to provide a theoretical basis for clinical diagnosis and treatment of CHI.Methods Fifty-six children who were diagnosed as CHI between February 2002 and January 2016 in Beijing Children′s Hospital Affiliated to Capital Medical University were selected as research subjects.A retrospective study was done about the clinical data and the treatment procedures of the 56 patients, such as perinatal conditions, clinical manifestations, laboratory data, treatments, prognosis and so on.Polymerase chain reaction（PCR）-DNA technology or next-generation sequencing technology was used to analyze the CHI relevant genes of the 56 patients.Results Thirty of the 56 patients carried CHI gene mutation.（1） Twenty-three of 56 patients（41.0%） carried ABCC8/KCNJ11 gene mutations： 4 of 23 patients carried complex heterozygous mutation, 1 of 23 patients carried both ABCC8 and KCNJ11 gene mutation, 1 of 23 patients carried maternally inherited ABCC8 gene mutation, 12 of 23 patients carried paternally inherited ABCC8 gene mutation, 1 of 23 patients carried paternally inherited KCNJ11 gene mutation, 3 of 23 patients carried de novo ABCC8 gene mutation, 1 of 23 patients had unknown genetic way, 19 of 23 patients were treated with Diazoxide, 2 of 19 patients were responsive to Diazoxide, 7 of 19 patients were unresponsive to Diazoxide and 10 of 19 patients were uncertain to Diazoxide.（2） Five of 56 patients（8.9%） carried GLUD1 gene mutation, 4 of 5 patients were treated with Diazoxide and they were all responsive to Diazoxide.（3） One of 56 patients（1.7%） carried de novo GCK gene mutation, responsive to Diazoxide treatment.（4） One of 56 patients（1.7%） carried maternally inherited SLC16A1 gene mutation, responsive to Diazo-xide treatment.Conclusions The ABCC8 gene and GLUD1 gene mutation are the main causative genes of CHI.The GCK gene and SLC16A1 gene mutation are in the minorit
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2017年第8期574-578,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
首都临床特色应用研究资助项目（Z141107002514142）
