Lemelman Michelle Blanco, Letourneau Lisa, Greeley Siri Atma W
Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, MC 5053, 5841 South Maryland Avenue, Chicago, IL 60637, USA.
Monogenic Diabetes Registry, University of Chicago Medicine, Kovler Diabetes Center, 900 East 57th Street, Chicago, IL 60637, USA.
Clin Perinatol. 2018 Mar;45(1):41-59. doi: 10.1016/j.clp.2017.10.006. Epub 2017 Dec 16.
Neonatal diabetes mellitus is likely to be due to an underlying monogenic defect when it occurs at less than 6 months of age. Early recognition and urgent genetic testing are important for predicting the clinical course and raising awareness of possible additional features. Early treatment of sulfonylurea-responsive types of neonatal diabetes may improve neurologic outcomes. It is important to distinguish neonatal diabetes mellitus from other causes of hyperglycemia in newborns. Other causes include infection, stress, inadequate pancreatic insulin production in preterm infants, among others. This review explores the diagnostic approach, mutation types, management, and clinical course of neonatal diabetes.
新生儿糖尿病若在6个月龄之前发病，很可能是由潜在的单基因缺陷所致。早期识别和紧急基因检测对于预测临床病程以及提高对可能存在的其他特征的认识非常重要。对磺脲类药物敏感型的新生儿糖尿病进行早期治疗可能会改善神经学预后。区分新生儿糖尿病与新生儿高血糖的其他病因很重要。其他病因包括感染、应激、早产儿胰腺胰岛素分泌不足等。本综述探讨了新生儿糖尿病的诊断方法、突变类型、管理及临床病程。
