Cho Ja Hyang, Kang Eungu, Lee Beom Hee, Kim Gu Hwan, Choi Jin Ho, Yoo Han Wook
Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, Seoul, Korea.
Medical Genetics Center, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, Seoul, Korea.
J Korean Med Sci. 2017 Jun;32(6):1042-1045. doi: 10.3346/jkms.2017.32.6.1042.
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia. Insulin therapy was initiated. At 10 months of age, the patient was unable to hold his head up and make eye contact with others. At 17.9 years of age, direct sequencing of KCNJ11 identified a heterozygous mutation of c.602G>A (p.R201H). Since then, treatment with gliclazide was initiated and the insulin dose was gradually reduced. Following 3 months, insulin was discontinued with a gliclazide dose of 2.4 mg/kg. The patient continued to have excellent glycemic control with a glycated hemoglobin (HbA1c) level of 5.8% after 5 months. However, the patient's psychomotor retardation did not improve. This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in KATP channel genes in patients with neonatal diabetes.
永久性新生儿糖尿病（PNDM）由ATP敏感性钾通道（KATP通道）亚基的突变引起。发育迟缓、癫痫和新生儿糖尿病（DEND）综合征是PNDM最严重的形式，其特征为各种神经学特征。我们报告了一例最初被误诊为1型糖尿病的DEND综合征患者，该患者成功地从胰岛素治疗转换为磺脲类药物治疗。一名50日龄男性出现发热和癫痫发作，并伴有持续性高血糖。开始胰岛素治疗。在10月龄时，该患者无法抬头且不能与他人进行眼神交流。在17.9岁时，对KCNJ11进行直接测序，发现了一个c.602G>A（p.R201H）的杂合突变。从那时起，开始使用格列齐特治疗，并逐渐减少胰岛素剂量。3个月后，停用胰岛素，格列齐特剂量为2.4mg/kg。5个月后，患者糖化血红蛋白（HbA1c）水平为5.8%，血糖控制仍极佳。然而，患者的精神运动发育迟缓并未改善。本研究报告了韩国首例由KCNJ11突变引起的DEND综合征病例，并强调对新生儿糖尿病患者筛查KATP通道基因突变的必要性。
