Neonatal diabetes mellitus: A model for personalized medicine

Abstract

Neonatal diabetes mellitus occurs in approximately 1 out of every 100,000 live births. It can be either permanent or transient, and recent studies indicate that is likely to have an underlying genetic cause, particularly when diagnosed before 6 months of age. Permanent neonatal diabetes is most commonly due to activating mutations in either of the genes encoding the two subunits of the ATP-sensitive potassium channel. In most of these patients, switching from insulin to oral sulfonylurea therapy leads to improved metabolic control, as well as possible amelioration of occasional associated neurodevelopmental disabilities. It remains to be determined what is the most appropriate treatment of other causes. The diagnosis and treatment of neonatal diabetes, therefore, represents a model for personalized medicine.

Current understanding of KATP channels in neonatal diseases: focus on insulin secretion disorders

“…With the discovery of the role of Kir6.2 mutations in causing neonatal diabetes mellitus, sulfonylureas have also become the main drug used to treat this disease. Patients achieve better glycemic control with sulfonylureas compared to insulin injections, and many of the side effects observed in type 2 diabetics (eg, hypoglycaemia) are not seen in patients with neonatal diabetes [80] .…”

4. New Insights of Islet Biology and the Pathophysiology of Type 2 Diabetes

“…Monogenic forms of diabetes include those responsible for diabetes onset either in the neonatal period or early adulthood (Table 4-1) (87,88,90). Even though the associated genetic loci are relatively rare within type 2 DM population, their identification illustrated that islet function was principally affected in these individuals.…”

Creation of the Web-Based University of Chicago Monogenic Diabetes Registry: Using Technology to Facilitate Longitudinal Study of Rare Subtypes of Diabetes

“…Other excessively rare syndromic forms are usually recessive and characterized by extra-pancreatic features. 9 Although uncovering such a genetic diagnosis can have huge ramifications on treatment, understanding of possible associated features, and genetic counseling of family members, the majority of cases remain unidentified and there is limited information regarding the long-term treatment outcomes and natural history of these forms of diabetes.…”