Dahl Amanda, Kumar Seema
Division of Pediatric Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
Diabetes Metab Syndr Obes. 2020 Feb 12;13:355-364. doi: 10.2147/DMSO.S198932. eCollection 2020.
Neonatal diabetes mellitus (DM) is defined by the onset of persistent hyperglycemia within the first six months of life but may present up to 12 months of life. A gene mutation affecting pancreatic beta cells or synthesis/secretion of insulin is present in more than 80% of the children with neonatal diabetes. Neonatal DM can be transient, permanent, or be a component of a syndrome. Genetic testing is important as a specific genetic mutation can significantly alter the treatment and outcome. Patients with mutations of either KCNJ11 or ABCC8 that encode subunits of the K channel gene mutation can be managed with sulfonylurea oral therapy while patients with other genetic mutations require insulin treatment.
新生儿糖尿病（DM）定义为出生后六个月内出现持续性高血糖，但也可能在出生后12个月内出现。超过80%的新生儿糖尿病患儿存在影响胰腺β细胞或胰岛素合成/分泌的基因突变。新生儿糖尿病可以是短暂性的、永久性的，或是综合征的一部分。基因检测很重要，因为特定的基因突变会显著改变治疗方法和预后。编码钾通道基因突变亚基的KCNJ11或ABCC8发生突变的患者可用磺脲类口服疗法治疗，而其他基因突变的患者则需要胰岛素治疗。
