关键词: 单基因糖尿病, 基因, 诊断, 精准治疗

Abstract:

Monogenic diabetes（MD）covers a wide range of heterogeneous diseases，including neonatal diabetes，maturity onset diabetes of the young and syndromic diabetes. The genetic diagnosis of MD helps to achieve precise therapy. As clinicians pay more attention to genetic screening in diabetes，more MD patients are identified. However，currently，the medicines of MD are often off ⁃label used，and the relevant guidelines or consensus rarely describe the detailed timing and dosage of medication. Thus，the main clinical challenge is how to implement precise treatment for MD cases. This study aims tosummarize the clinical and genetic characteristics of MD and describe how to implement individualized treatment and genetic counseling for several kinds of MD with specific treatment methods.

Key words:

monogenic diabetes, gene, diagnosis, precision treatment