Yamazaki Masayo, Sugie Hideo, Oguma Makiko, Yorifuji Tohru, Tajima Toshihiro, Yamagata Takanori
Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Faculty of Health and Medical Sciences, Tokoha University, Shizuoka, Japan.
Clin Pediatr Endocrinol. 2017;26(3):165-169. doi: 10.1297/cpe.26.165. Epub 2017 Jul 27.
Neonatal diabetes mellitus (NDM) is an insulin-requiring monogenic form of diabetes that generally presents before six months of age. The following two types of NDM are known: transient NDM (TNDM) and permanent NDM (PNDM). Here we report on an infant with TNDM caused by a mutation (p.Gly832Cys) of the gene for the ATP binding cassette subfamily C member 8 (ABCC8). The patient exhibited hyperglycemia (600 mg/dL) at five weeks of age and insulin treatment was initiated. As genetic analysis identified a missense mutation within , the insulin was replaced by glibenclamide at five months of age. Thereafter, the insulin was successfully withdrawn and his glycemic condition was well controlled at a dose of 0.0375 mg/kg/d. Since the patient's blood glucose was under control and serum C-peptide levels were measurable, glibenclamide was stopped at 1 yr, 10 mo of age. The lack of DM relapsed to date confirms the TNDM diagnosis. In conclusion, when insulin is replaced with a sulfonylurea-class medication (SU) in NDM patients, serum C-peptide levels should be closely monitored and fine adjustment of SU dose is recommended.
新生儿糖尿病（NDM）是一种需要胰岛素治疗的单基因糖尿病形式，通常在6个月龄前发病。已知NDM有以下两种类型：短暂性新生儿糖尿病（TNDM）和永久性新生儿糖尿病（PNDM）。在此，我们报告1例由ATP结合盒转运体C家族成员8（ABCC8）基因突变（p.Gly832Cys）引起的TNDM婴儿。该患者5周龄时出现高血糖（600 mg/dL），并开始胰岛素治疗。由于基因分析在 内鉴定出一个错义突变，该婴儿5月龄时胰岛素被格列本脲替代。此后，胰岛素成功停用，其血糖状况通过0.0375 mg/kg/d的剂量得到良好控制。由于患者血糖得到控制且血清C肽水平可测，格列本脲于1岁10月龄时停用。至今未复发糖尿病证实了TNDM的诊断。总之，在NDM患者中用磺脲类药物（SU）替代胰岛素时，应密切监测血清C肽水平，并建议对SU剂量进行精细调整。
