罕见病例在认识糖尿病中的重要作用-英文版.pptx

Monogenic diabetes and polygenic diabetes;Classification of diabetes mellitus;Hereditary syndrome with diabetes Genetic defects in beta cells Genetic defects in insulin action T2DM T1DM GDM Endocrine disease Exocrine pancreas disease Drugs Infection;MODY——Maturity-Onset Diabetes of the Young;Clinical characteristics of MODY;Comparison of clinical characteristics between MODY and T2DM;Molecular subtyping of MODY;The action mode of MODY proteins in the beta cell;T1D was diagnosed 1 month after birth, without ketosis Insulin therapy (CSII) Hypoglycemic coma twice Genetic testing at 6.5 years old De novo mutation--KCNJ11 R201C;Mechanisms of KCNJ11 mutations lead to diabetes;Pearson ER et al. N Engl J Med 2006;Sulfonylurea therapy instead of insulin Well-controlled blood glucose, without hypoglycemic coma;Sulfonylureas are targeted drugs for KCNJ11;KCNJ11 and early-onset “T2DM” in Chinese pedigrees;3 novel mutations in KCNJ11;Functional studies of KCNJ11 mutation;KCNJ11;Association of KCNJ11 E23K and T2D in Chinese;Pharmacogenomic research of KCNJ11 E23K in Chinese;Relationship between KATP function and phenotypes;The action mode of MODY proteins in the beta cell;;Pedigree with PAX4 mutation;;Global meta-analysis in stage 1+2+3+4;PAX4 is a novel susceptible gene for T2DM in Chinese