Background:
Neonatal diabetes mellitus (NDM), defined as the onset of diabetes before 6 months of age, is a rare disease with a prevalence of 1 in 300,000 live births. Activating heterozygous mutations in the KCNJ11 and ABCC8 genes, encoding the subunits of the ATP-sensitive K+ channel in the β-cells are the most common cause and oral sulfonylurea (SU) have been frequently demonstrated to be an effective treatment.
We report a neonate with NDM that was successfully transitioned to SU from insulin soon after birth due to prompt genetic diagnosis.
Case presentation:
A female AGA neonate (32 weeks, 1600 gram) presented with persistent hyperglycemia soon after birth, and was started on an insulin drip. The father had diabetes from the age of 21 and was treated with SU. he had 3 siblings that all died shortly after birth. The mother had morbid obesity and diabetes from the age of 35, that remised after bariatric surgery.
At the age of 2 weeks, while still in the neonatal unit and on insulin drip, a genetic testing revealed a novel heterozygous ABCC8 gene missense mutation (p.D212E). She inherited that mutation from her father. Subsequently, the patient was transferred from IV insulin therapy to oral SU (glyburide) which resulted in complete discontinuation of insulin and near-euglycemia within a few days. She is currently 1 year of age, thriving with normal cognitive development and still treated with SU with a recent HBA1C of 5.5%.
Conclusion:
This case represents the importance of early genetic diagnosis of NDM that brings to the prompt initiation of oral SU treatment.
