Neonatal diabetes mellitus due to INS gene mutation: a clinical case.

Abstract

Neonatal diabetes mellitus (NDM) is a group of rare, genetically heterogeneous metabolic disorders characterized by postnatal β-cell dysfunction manifested by hyperglycemia and hypoinsulinemia. NDM is a relatively rare disease with an incidence of 1:200,000 to 1:500,000 live births. The genetic nature of NDM is quite heterogeneous. The peculiarity of NDM is the absence of autoantibodies specific to autoimmune diabetes. This pathology is characterized by a decrease or absence of insulin and C-peptide. An important clinical symptom is delayed intrauterine development and low birth weight, which is explained by insufficient anabolic action of insulin in utero. The aim of the study. To analyze a clinical case of NDM with a mutation in the INS gene.