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Pediatric Monogenic Diabetes: A Unique Challenge and Opportunity
Abstract:
Monogenic diabetes affects approximately 120,000 people in the United States but continues to be misdiagnosed. Within the pediatric population, 1% to 3% of diabetes is monogenic, and early diagnosis and genetically targeted management of congenital diabetes and maturity onset diabetes of the young (MODY) can have a tremendous impact on future health outcomes and quality of life. In some of the more common monogenic diabetes types, patients can switch from insulin therapy to sulfonylureas or even discontinue glucose-lowering therapy with stable glycemic control. Advancements in the field have identified tools and resources to aid in distinguishing patients likely to have monogenic diabetes from the more common forms of type 1 and type 2 diabetes. However, genetic testing with accurate interpretation of results is necessary to confirm a diagnosis and direct treatment selection and disease management. This article discusses challenges and opportunities in monogenic diabetes in the pediatric population. [Pediatr Ann. 2019;48(8):e319-e325.].
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