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首页> 外文期刊>Practical diabetes international : >Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation
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Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation

机译：格列本脲控制了一名具有Kir6.2突变的38岁女性易患酮症的糖尿病

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Monogenic forms of diabetes, where there is a single gene defect causing diabetes, are rare, accounting for about 1-2% of all cases of diabetes in young people. Neonatal diabetes is one form of monogenic diabetes. It usually presents within six months of birth and can be permanent or transient. Several mutations in the KCNJ11 gene lead to permanent neonatal diabetes by interfering with insulin release from islet cells. These patients can be treated with sulphonylureas as they facilitate insulin secretion by acting on the mutated pancreatic potassium channel. We report the case of a patient with KCNJ11 S3C mutation, who is the oldest patient with neonatal diabetes to have successfully transferred from insulin to sulphonylureas. She was diagnosed with diabetes at the age of four and was treated as having type 1 diabetes mellitus. Her glycaemic control was always sub-optimal; she had had several admissions with diabetic ketoacidosis. Her daughter who developed diabetes at six weeks was found to have neonatal diabetes, which led to her genetic testing. Our patient was also diagnosed with the same KCNJ11 mutation as her daughter. At 38 years of age, after outpatient assessment, she was started on glibenclamide and in three weeks came offinsulin completely, achieving good glycaemic control with glibenclamide. Her HbA_(1c) improved from 10% pre-transfer to 5.9% in four months.
机译：单一基因缺陷导致糖尿病的单基因糖尿病很少见，约占年轻人所有糖尿病病例的1-2％。新生儿糖尿病是单基因糖尿病的一种形式。它通常在出生后六个月内出现，可以是永久性的或短暂的。 KCNJ11基因中的几个突变会干扰胰岛细胞的胰岛素释放，从而导致永久性新生儿糖尿病。这些患者可以通过磺酰脲类药物治疗，因为它们通过作用于突变的胰腺钾通道促进胰岛素分泌。我们报告了一名患有KCNJ11 S3C突变的患者，该患者是已成功从胰岛素成功转移至磺脲类药物的最老的新生儿糖尿病患者。她四岁时被诊断出患有糖尿病，被视为患有1型糖尿病。她的血糖控制总是次优;她曾因糖尿病酮症酸中毒入院。她的女儿在六周时患上糖尿病，被发现患有新生儿糖尿病，因此进行了基因检测。我们的患者也被诊断出与女儿相同的KCNJ11突变。 38岁时，经过门诊评估，她开始使用格列本脲，并在三周内完全脱离胰岛素，使用格列本脲实现了良好的血糖控制。她的HbA_（1c）在四个月内从转移前的10％提高到5.9％。

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