NEONATAL DIABETES MELLITUS AND ITS TYPES

Vedant Deshpande* and Bugubaeva Mahabat Mitalipovna PhD MD

ABSTRACT

Diabetes mellitus most commonly occurs after the neonatal period and results from complex interactions between both environmental and incompletely-penetrant genetic factors. Advances in molecular genetics over the past decade hastened the realization that diabetes that occurs very early life is most often due to underlying monogenic defects — disorders caused by mutation(s) in a single gene. Neonatal (or congenital) diabetes mellitus (NDM) is now known to occur in approximately 1 in 90,000-160,000 live births. There are over 20 known genetic causes for neonatal diabetes mellitus. NDM may be categorized by phenotypic characteristics into transient, permanent and syndromic forms. In a large international cohort study of 1,020 patients clinically diagnosed with diabetes prior to 6 months of age, 80 percent had a known genetic diagnosis. Mutations in KCNJ11 and ABCC8 (affecting the pancreatic beta-cell K-ATP channel) may be treated with oral sulfonylureas and account for about 40 percent of these patients. Preliminary studies indicate that early sulfonylurea treatment, in contrast to insulin, may improve neurodevelopmental outcomes in sulfonylurea-responsive patients. Neonatal diabetes mellitus is a rare form of diabetes that occurs within the first 6 months of life. Our bodies need insulin to help our cells make energy. Infants with this condition do not produce enough insulin, which increases blood glucose levels.

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