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背景一位17岁的女性患者被送至我院对其1型糖尿病的诊断进行再评估。该患者于15周龄时因酮症酸中毒被诊断为1型糖尿病。患者有轻度的学习障碍,在校需要额外支持。患者无糖尿病家族史。检测方法测量血清C肽浓度、谷氨酸脱羧酶自身抗体浓度,进行分子遗传学检测。诊断59V>MKir6.2基因突变所致DEND综合征(中度发育迟滞、癫痫及新生儿糖尿病)治疗停用胰岛素,采用高剂量格列本脲治疗。患者血糖得到良好控制,HbA1c水平持续控制在6.5%以内,且无低血糖发生。
Background A 17 year old female patient was sent to our hospital to reassess her diagnosis of type 1 diabetes. The patient was diagnosed with type 1 diabetes due to ketoacidosis at 15 weeks of age. Patients have mild learning disabilities and need extra support at school. Patients with no family history of diabetes. Detection methods to measure serum C-peptide concentration, glutamic acid decarboxylase autoantibody concentration, molecular genetic testing. Diagnosis of 59V> MKir6.2 gene mutation caused by DEND syndrome (moderate developmental delay, epilepsy and neonatal diabetes) treatment of insulin withdrawal, the use of high doses of glyburide treatment. Patients with good blood sugar control, HbA1c level continued to control less than 6.5%, and no hypoglycemia.