Ando Akihiko, Nagasaka Shoichiro, Ishibashi Shun
Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Showa University Fujigaoka Hospital, Kanagawa Japan.
Endocrinol Diabetes Metab Case Rep. 2018 Apr 11;2018. doi: 10.1530/EDM-18-0005. eCollection 2018.
We report a case of a woman with diabetes mellitus caused by a genetic defect in -coding sulfonylurea receptor 1 (SUR1), a subunit of the ATP-sensitive potassium (K) channel protein. She was diagnosed with diabetes at 7 days after birth. After intravenous insulin drip for 1 month, her hyperglycaemia remitted. At the age of 13 years, her diabetes relapsed, and after that she had been treated by intensive insulin therapy for 25 years with relatively poor glycaemic control. She was switched to oral sulfonylurea therapy and attained euglycaemia. In addition, her insulin secretory capacity was ameliorated gradually.
Genetic testing should be considered in any individuals or family with diabetes that occurred within the first year or so of life.Sulfonylurea can achieve good glycaemic control in patients with K channel mutations by restoring endogenous insulin secretion, even if they were treated with insulin for decades.Early screening and genetic testing are important to improve the prognosis of patients with neonatal diabetes mellitus arising from or mutation.
我们报告一例由编码磺脲类受体1（SUR1）（一种ATP敏感性钾（K）通道蛋白亚基）的基因缺陷导致糖尿病的女性病例。她在出生7天后被诊断为糖尿病。静脉输注胰岛素1个月后，她的高血糖症缓解。13岁时，她的糖尿病复发，此后她接受强化胰岛素治疗25年，血糖控制相对较差。她改用口服磺脲类药物治疗并实现了血糖正常。此外，她的胰岛素分泌能力逐渐改善。
对于在生命最初一年左右发生糖尿病的任何个体或家庭，都应考虑进行基因检测。磺脲类药物可通过恢复内源性胰岛素分泌，使钾通道突变患者实现良好的血糖控制，即使他们已经接受了数十年的胰岛素治疗。早期筛查和基因检测对于改善由或突变引起的新生儿糖尿病患者的预后很重要。
