新生儿期起病的6例糖尿病临床特征和基因分析  

Clinical characteristics and genetic analysis of 6 cases of neonatal diabetes mellitus

作　　者：武秀梅 赵玉娟 陈晨[1] 白改改 马英 Wu Xiumei;Zhao Yujuan;Chen Chen;Bai Gaigai;Ma Ying(Department of Neonatology,the Affiliated Children Hospital of Xi'an Jiaotong University,Xi'an 710003,China;Department of Endocrinology,the Affiliated Children Hospital of Xi'an Jiaotong University,Xi'an 710003,China)

机构地区：[1]西安交通大学附属西安市儿童医院新生儿科,西安710003 [2]西安交通大学附属西安市儿童医院内分泌科,西安710003

出　　处：《中华新生儿科杂志（中英文）》2023年第4期225-229,共5页Chinese Journal of Neonatology

摘　　要：目的探讨新生儿期起病的新生儿糖尿病(neonatal diabetes mellitus,NDM)患儿临床特征、基因变异特点及预后。方法选择2015年1月至2022年1月西安交通大学附属西安市儿童医院新生儿科诊治的新生儿期起病的NDM患儿进行回顾性分析,总结患儿临床表现、生化指标、基因测序结果,以及治疗、转归、发育等情况。结果共纳入6例NDM患儿,男女各3例,均为足月儿,5例出生时低体重;1例有糖尿病家族史;发现血糖增高时日龄为1~11 d,平均4 d;3例因低出生体重进行血糖筛查确诊,3例因感染和(或)合并糖尿病酮症酸中毒确诊。6例血C肽均降低;5例血胰岛素降低,1例在正常范围内较低水平。6例均行基因检测,异常4例,其中2例ABCC8基因变异[c.2060C>T(p.T687M)未报道、c.674T>C(p.L225P)已报道],1例KCNJ11基因变异[c.602G>A(p.Arg201His)未报道],1例父系单亲二倍体6q24(已报道)。所有患儿均给予胰岛素治疗,3例行格列本脲试验,1例有效并成功替代胰岛素。随访至今(最小4个月,最大5岁),4例诊断暂时性NDM,1例诊断永久性NDM,1例因4月龄死亡未分型。1例存在精神、运动及语言发育落后,其余患儿各项发育指标正常。结论新生儿期起病的NDM患儿多为低出生体重儿,以暂时性NDM多见,常伴血胰岛素及C肽降低,积极基因检测可协助诊治。Objective To study the clinical features,genetic characteristics and prognosis of neonatal diabetes mellitus(NDM).Methods From January 2015 to January 2022,neonates with NDM admitted to the Department of Neonatology of our hospital were retrospectively reviewed.Their clinical manifestations,biochemical data,genetic tests,treatments and outcomes were analyzed.Results A total of 6 cases with NDM were included,with 3 males and 3 females.All 6 cases were full-term infants,5 were low birth weight infants and 1 had family history of diabetes.High blood glucose were found on 1~11 d(average 4 d)after birth.3 cases were diagnosed during blood glucose screening for low birth weight and 3 cases were diagnosed due to infection and/or diabetic ketoacidosis.Blood C-peptide levels were below normal range in all 6 cases.Blood insulin levels were decreased in 5 cases and remained at the lower limit of normal range in 1 case.All infants received genetic tests and 4 showed abnormal results,including 2 cases of ABCC8 gene mutation[c.2060C>T(p.T687M),not reported;c.674T>C(p.L225P),reported],1 case of KCNJ11 gene mutation[c.602G>A(p.Arg201His),not reported]and 1 case of paternal uniparental disomy(UPD)6q24(reported).All 6 cases were treated with insulin.Glibenclamide was experimented to replace insulin in 3 cases and 1 case was successful.During follow-up(at the age 4 months~5 years old),4 cases were diagnosed with transient NDM,1 case with permanent NDM and 1 case died at the age of 4 months without classification.1 case showed psychomotor and language delay and the others had otherwise normal development.Conclusions Most NDM infants are low birth weight infants with reduced blood insulin and C-peptide.Transient NDM are common.Proactive genetic testing may help treatment.

关 键 词：新生儿糖尿病 基因变异 胰岛素 C肽 格列本脲 

分 类 号：R722.1[医药卫生—儿科]