ABCC8基因突变致新生儿糖尿病1例并文献复习

One case of Neonatal Diabetes Mellitus caused by ABCC8 gene mutation and literature review

目的探讨新生儿糖尿病(neonatal diabetes mellitus,NDM)患儿的临床特征及基因测序结果,为临床诊疗提供依据。方法分析河北省人民医院2021年1月确诊的1例NDM患儿的临床资料,对其外周血进行DNA基因测序,并对相关文献进行复习。结果患儿出生体质量2.2 kg,生后第2天发现血糖高,胰岛素、C肽水平降低,经胰岛素治疗14 d后仍有高血糖症状,符合NDM诊断。基因检测提示:ABCC8基因存在新生复合杂合的错义突变:c.752G>A(p.G251E)、c.772A>G(p.R258G),磺脲类药物对该患儿治疗有效。结论NDM是一种罕见的单基因遗传性疾病,临床表现缺乏特异性,因此无论是确诊还是疑似NDM的患儿,都应积极进行基因检测,对临床诊治和预后都有重要意义。

Objective To investigate the clinical characteristics and gene sequencing results of NDM,so as to provide evidence for clinical diagnosis and treatment.Methods Clinical data of 1 child diagnosed with NDM in Hebei People's Hospital in January 2021 were retrospectively analyzed,and DNA gene sequencing was performed in the peripheral blood of the child,and relevant literatures were reviewed.Results The child was born with a weight of 2.2kg.On the second day after birth,blood glucose significantly increased and insulin and C-peptide levels decreased.After 14 days of insulin treatment,hyperglycemia was still present,which was consistent with the diagnosis of NDM.Genetic testing indicated that there were missense mutations of newborn compound heterozygote in ABCC8 gene:c.752G>A(p.G251E),c.772A>G(p.R258G).The mutation of c.772A>G in ABCC8 gene had not been reported before,and sulfonylureas were effective for the treatment of the child.Conclusion NDM is a rare monogenic genetic disease with a lack of specificity in clinical manifestations.For children diagnosed or suspected of NDM,genetic testing should be actively carried out,which is of great significance for clinical diagnosis,treatment and prognosis.