并非所有婴儿糖尿病都是1型：病例报告
Not All Diabetes in Infants is Type 1: A Case Report.
作者信息
Arce Karla M, Pantalone Kevin M
机构信息
Department of Endocrinology, Diabetes and Metabolism, Mount Sinai Medical Center, Miami Beach, FL, USA.
Department of Endocrinology, Diabetes and Metabolism, Cleveland Clinic, Cleveland, OH, USA.
出版信息
Diabetes Ther. 2016 Jun;7(2):369-75. doi: 10.1007/s13300-016-0171-1. Epub 2016 Apr 26.
Abstract
Neonatal diabetes mellitus (NDM), defined as persistent hyperglycemia occurring in the first months of life, is a rare cause of hyperglycemia and is often misdiagnosed as type 1 diabetes mellitus (T1DM). Numerous reports have shown that the successful transition from insulin to sulfonylurea agents can be achieved in up to 90% of patients with NDM. However, most of the reports pertain to infants; the literature is limited regarding treatment of adults with NDM. We present our experience with a patient with permanent NDM, initially misdiagnosed as T1DM, who subsequently was successfully transitioned to oral sulfonylurea therapy after 37 years of insulin dependence.
摘要
新生儿糖尿病（NDM）定义为在生命最初几个月出现的持续性高血糖，是高血糖的罕见病因，常被误诊为1型糖尿病（T1DM）。大量报告显示，高达90%的NDM患者可成功从胰岛素过渡到磺脲类药物治疗。然而，大多数报告涉及婴儿；关于成人NDM治疗的文献有限。我们介绍了一名永久性NDM患者的治疗经历，该患者最初被误诊为T1DM，在依赖胰岛素37年后，成功过渡到口服磺脲类药物治疗。
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Korean J Pediatr. 2015 Aug;58(8):309-12. doi: 10.3345/kjp.2015.58.8.309. Epub 2015 Aug 21.
2
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.早期全面基因组检测对新生儿糖尿病临床护理的影响：一项国际队列研究。
Lancet. 2015 Sep 5;386(9997):957-63. doi: 10.1016/S0140-6736(15)60098-8. Epub 2015 Jul 28.
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Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.开始使用磺脲类药物时的年龄会影响与KCNJ11相关的新生儿糖尿病的治疗结果。
Diabetologia. 2015 Jul;58(7):1430-5. doi: 10.1007/s00125-015-3593-9. Epub 2015 Apr 17.
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