Neonatal diabetes mellitus: current perspective

Abstract

Neonatal diabetes mellitus (NDM) is a rare form of diabetes characterized by hyperglycemia occurring in the first few months of life. It can present as either transient NDM (TNDM), which resolves by a few months, or permanent NDM (PNDM), which continues throughout life. The etiology of this disease remained unclear until recently, when advances in molecular genetic techniques illuminated the mechanisms involved in the pathogenesis of the disease. Having delineated the genes involved in insulin production and secretion and their association with NDM, we currently understand the molecular basis of this disease. While most TNDM cases are caused by the overexpression of chromosome 6q24, the majority of PNDM cases are due to mutations in the adenosine triphosphate-sensitive potassium (K ATP) channel. The improved understanding of the etiology of the disease had revolutionized the diagnosis and its management with oral sulfonylureas. The primary objective of this study was to review the current understanding of neonatal diabetes, including its genetic etiologies, clinical presentation, diagnosis, acute treatment, and long-term management.

Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico

“…The symptomatology is nonspecific and involves diverse neonatal diagnoses, as sepsis. An uncommon etiology as neonatal diabetes mellitus must be considered if a neonate presents refractory hyperglycemia within the first 6 postnatal months and low birth weight [3]. …”

“…Neonatal diabetes mellitus (NDM) is a very uncommon cause of hyperglycemia in the newborn, occurring in 1 in every 300,000 to 400,000 live births [1, 3, 4]. NDM presents as insulin requiring persistent hyperglycemia occurring in the first 6 postnatal months, associated with insufficient production of endogenous insulin [1, 3].…”

“…NDM presents as insulin requiring persistent hyperglycemia occurring in the first 6 postnatal months, associated with insufficient production of endogenous insulin [1, 3]. NDM is not an autoimmune disorder as insulin-dependent diabetes mellitus in childhood [1, 3]. The insulinopenia of NDM results from abnormal pancreatic islet development, decreased B-cell mass, or B-cell dysfunction [3].…”

“…NDM is not an autoimmune disorder as insulin-dependent diabetes mellitus in childhood [1, 3]. The insulinopenia of NDM results from abnormal pancreatic islet development, decreased B-cell mass, or B-cell dysfunction [3]. …”

“…Additionally, they may present with failure to thrive, macroglossia, umbilical hernia, malformations of the brain, heart, or kidneys, hypotonia, deafness, and neurodevelopmental delay [1, 3, 4]. …”