Clinical features and precision medicine of the six most common types of monogenic diabetes
10.3760/cma.j.issn.1000-6699.2019.02.015
- VernacularTitle:六种常见单基因糖尿病的临床特征及个体化精准诊疗
- Author:
Yumeng HUANG
1
;
Hua SHU
;
Ming LIU
Author Information
1. 天津医科大学总医院内分泌代谢科 300052
- Keywords:
Monogenic diabetes;
Precision medicine
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(2):165-170
- CountryChina
- Language:Chinese
-
Abstract:
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.
