WCTD2016 Abstract Topics Design a Clinical Program for Success (17 abstracts)
1Research, St Hope Foundation, Houston, Texas, USA; 2Clinical Trials, Clinical Trial Network, Bend, Oregon, USA.
Background: Monogenic diabetes is a rare form of diabetes which accounts for 5% of all diabetes cases. This is caused by a single gene mutation mostly inherited from an autosomal dominant pattern. The two types of monogenic diabetes are Neonatal monogenic diabetes (NMD) and Maturity-onset diabetes of the young (MODY). Accurate diagnosis of monogenic diabetes remains to be a great challenge for most clinicians due to its overlapping clinical features from other forms of diabetes.
Objectives: It is our primary objective to design a clinical tool that serves as a guide in the diagnosis of monogenic diabetes. Our secondary objective is to design a patient focused approach in clinical management and early diagnosis.
NMD | MODY | |
Age | 06 months | 6 months to <25 years old |
Family history | Positive | Positive |
Risk factors | Low birth weight, DEND syndrome | Non-obese, non-hypertensive, Low risk ethnic group |
Glycemic pattern | Acute general hyperglycemia | FBS of 5.58 mmol/l |
β-cell antibodies | Negative | Negative |
Gene mutation (most common) | KCNJ11. ABCC8. Chr 6q24 | GCK, HNF1A, HNF4A genes |
Gene mutation | Treatment | |
NDM | KCNJ11 | Sulfonylureas |
ABCC8 | Sulfonylureas | |
Chr 6q24 | Insulin, some may respond to Sulfonylureas | |
MODY | GCK | Diet and lifestyle modification, medication not required |
HNF1A and HNF4A | Mostly Sulfonylureas, some with insulin |
Methods
Conclusion: It is our recommendation that primary care physicians should use this tool as to differentiate clinical characteristics of monogenic diabetes from other forms of diabetes. Genetic testing serves as a confirmatory tool in the diagnosis and defines the appropriate treatment plan for the patient. Performing a screening test based on the American Diabetes Association guidelines, coupled with educating and counselling the patient/family should be part of a standard of care for early and accurate management of diabetes.