葡萄糖激酶基因杂合突变致新生儿糖尿病一例报告并文献复习

Neonatal diabetes mellitus with heterozygous mutations in the glucokinase gene:One case report and review of the literature

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 ）7.1～11.3 mmol／L ，FIns 2.12～10.74 mIU／ml ，FC‐P 1.2～1.5 ng／ml ，HbA1 c 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M ODY2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。

[Summary] We retrospectively described the clinical and genetic characteristics in one case of neonatal diabetes mellitus （NDM ） with heterozygous mutations in glucokinase （GCK ） gene. During the follow‐up period with diabetes diet therapy ,the self‐monitoring fasting glucose swung from 6.5 to 8.6 mmol/L ,postprandial glucose 7.1~11.3 mmol/L ,fasting insulin （FIns）2.12~10.74 mIU/ml ,C‐peptide （FC‐P）1.2~ 1.5 ng/ml and HbA1 c maintained at 6.8% . Among 14 family members ,his mother and maternal aunt had gestational diabetes and diabetes. His maternal grandpa and grandpa had diabetes.There were heterozygous mutations in GCK gene（c.1190G〉 T ,p.Arg397Leu） in proband and his mother , but not in his father and his twin sister. Review of the literature indicated that GCK gene heterozygous mutations can cause PNDM and MODY2. Clinical characteristics and gene sequencing are very important in the diagnosis of PNDM and MODY2 ,especially in patients with family history of diabetes.