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回顾分析一例由葡萄糖激酶(GCK)基因杂合突变所致新生儿糖尿病(NDM)的临床资料和分子遗传学特征。仅予饮食干预后随访末稍血糖:FBG 6.5~8.6 mmol/L、餐后血糖(PBG)7.1~11.3mmol/L,FIns 2.12~10.74 mIU/ml,FC-P 1.2~1.5 ng/ml,HbA_1c 6.8%。调查患儿家系14名,发现4例糖尿病患者(患儿的姨母和母亲:GDM和糖尿病;外祖父和祖父:糖尿病),患儿及其母亲存在GCK基因c.1190G>T(p.Arg397Leu)杂合突变,其父亲和双胎妹妹未见基因突变。GCK基因杂合突变引起NDM还是MODY2还需进一步结合临床和基因检查鉴别,对于NDM患儿,尤其是有糖尿病家族史者,基因检测对病因诊断尤为重要。
A retrospective analysis of a case of neonatal diabetes mellitus (NDM) caused by heterozygous mutations of glucokinase (GCK) gene clinical data and molecular genetic characteristics. Post-intervention end-stage hypoglycaemic rates of FBG 6.5 to 8.6 mmol / L, postprandial glucose 7.1 to 11.3 mmol / L, FIns 2.12 to 10.74 mIU / ml, FC-P 1.2 to 1.5 ng / ml, HbA 1 c 6.8%. A total of 14 pedigrees were investigated. Four patients with diabetes (aunt and mother with children: GDM and diabetes; grandfather and grandfather: diabetes) were found in children and their mothers. GCI gene c.1190G> T (p.Arg397Leu) Combined mutation, his father and twin fetuses did not see gene mutation. GCM genetic mutation caused by NDM or MODY2 need to be further combined with clinical and genetic testing to identify, for children with NDM, especially those with family history of diabetes, genetic testing is particularly important for the diagnosis of etiology.