六种常见单基因糖尿病的临床特征及个体化精准诊疗

Clinical features and precision medicine of the six most common types of monogenic diabetes

单基因糖尿病是由单个基因突变所致的特殊类型糖尿病,在临床上存在较高的误诊率。常见的6种类型的单基因糖尿病,包括HNF1α、GCK、HNF4α、KCNJ11、ABCC8、INS这六个基因突变导致的新生儿糖尿病及青少年起病的成人型糖尿病。根据以往的流行病学调查,这6个基因突变导致单基因糖尿病的发病率占所有单基因糖尿病的90%以上。因此,本文就常见单基因糖尿病临床特征及个体化精准诊疗的研究进展进行综述,并阐释单基因糖尿病研究对理解1型及2型糖尿病发病机制的意义,最后讨论单基因糖尿病疾病筛查模型的研究进展。

Monogenic diabetes is a special type of diabetes caused by a single gene mutation, and it is commonly misdiagnosed in clinical practice. The two major forms of monogenic diabetes are neonatal diabetes(NDM) and maturity onset diabetes of the young(MODY). The most common mutations in 6 genes, induding HNF1α, GCK, HNF4α, KCNJ11, ABCC8, and INS, account for more than 90% of all monogenic diabetic cases. This article is to review recent advances in clinical features, and precision medicine of monogenic diabetes, and to discuss the significance of insights gained from monogenic diabetes in better understanding the pathogenesis of type 1 and type 2 diabetes. The current models for screening of monogenic diabetes were also discussed.