A patient focused monogenic diabetes clinical program for the primary care physician

Katherine Ann Asuncion; Thuy Pham; Griselda Herrera

doi:10.1530/endoabs.43.OC14

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Endocrine Abstracts (2016) 43 OC14 | DOI: 10.1530/endoabs.43.OC14

WCTD2016 Abstract Topics Design a Clinical Program for Success (17 abstracts)

A patient focused monogenic diabetes clinical program for the primary care physician

Katherine Ann Asuncion ¹ , Thuy Pham ² & Griselda Herrera ²

Author affiliations

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.

**Table 1** Characteristics of monogenic diabetes
	NMD	MODY
Age	0–6 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 5.5–8 mmol/l
β-cell antibodies	Negative	Negative
Gene mutation (most common)	KCNJ11. ABCC8. Chr 6q24	GCK, HNF1A, HNF4A genes

**Table 2** Clinical management of monogenic Diabetes
	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.