Department of Medicine, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago Medicine, 5841 S. Maryland Ave. MC 1027, Chicago, IL 60637, USA.
Department of Medicine, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago Medicine, 5841 S. Maryland Ave. MC 1027, Chicago, IL 60637, USA; Department of Pediatrics, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago Medicine, 5841 S. Maryland Ave. MC 1027, Chicago, IL 60637, USA.
Curr Opin Genet Dev. 2018 Jun;50:25-34. doi: 10.1016/j.gde.2018.01.005. Epub 2018 Feb 16.
The majority of patients diagnosed with diabetes less than 6 months of age, and many cases diagnosed between 6 and 12 months of age, have a gene mutation that causes permanent or transient hyperglycemia. Recent research advances have allowed for the discovery of new causes of congenital diabetes, including genes involved in pancreatic development (GATA4, NKX2-2, MNX1) and monogenic causes of autoimmune dysregulation (STAT3, LRBA). Ongoing follow-up of patients with KCNJ11 and ABCC8 mutations has supported the safety and efficacy of sulfonylureas, as well as the use of insulin pumps and continuous glucose monitors in infants with insulin-requiring forms of monogenic diabetes. Future studies are needed to improve clinical care and outcomes for these patients and their families.
大多数在 6 个月以下被诊断为糖尿病的患者，以及许多在 6 至 12 个月被诊断为糖尿病的患者，都有一种基因突变，导致永久性或暂时性高血糖。最近的研究进展使得人们发现了先天性糖尿病的新病因，包括参与胰腺发育的基因（GATA4、NKX2-2、MNX1）和自身免疫失调的单基因病因（STAT3、LRBA）。对 KCNJ11 和 ABCC8 突变患者的持续随访支持了磺酰脲类药物的安全性和有效性，以及胰岛素泵和连续血糖监测仪在需要胰岛素的单基因糖尿病婴儿中的应用。未来的研究需要改善这些患者及其家庭的临床护理和结果。
