Monogenic diabetes mellitus and clinical implications of genetic diagnosis
- Author:
Eungu KANG
1
;
Lindsey Yoojin CHUNG
;
Yu Jin KIM
;
Kyung Eun OH
;
Young-Jun RHIE
Author Information
- Publication Type:Review Article
- From: Precision and Future Medicine 2021;5(3):106-116
- CountryRepublic of Korea
- Language:English
- Abstract: Monogenic diabetes mellitus, which is diabetes caused by a defect in a single gene that is associated with β cell function or insulin action, accounts for 1% to 6% of all pediatric diabetes cases. Accurate diagnosis is important, as the effective treatment differs according to genetic etiology in some types of monogenic diabetes: high-dose sulfonylurea treatment in neonatal diabetes caused by activating mutations in KCNJ11 or ABCC8; low-dose sulfonylurea treatment in HNF1A/HNF4A-diabetes; and no treatment in GCK diabetes. Monogenic diabetes should be suspected by clinicians for certain combinations of clinical features and laboratory results, and approximately 80% of monogenic diabetes cases are misdiagnosed as type 1 diabetes or type 2 diabetes. Here, we outline the types of monogenic diabetes and the clinical implications of genetic diagnosis.
