ESPE Abstracts

Introduction: Neonatal diabetes is a rare condition that can present in the first months of life. Neonatal diabetes has more than 20 genetic origins that are currently known. About 40% of these patients carry mutations in KCNJ11 and ABCC8 genes, which impair the pancreatic beta-cell K-ATP channels and can be treated with oral sulfonylureas. The purpose of this case report is to present a patient diagnosed with neonatal diabetes and the subsequent management of the condition.

Objective: The objective of this case report is to describe the presentation, diagnosis, and management of a patient with neonatal diabetes. The report aims to highlight the importance of genetic testing for the appropriate use of medications such as Glibenclamide in the treatment of neonatal diabetes.

Case Report: 37 day-old male patient was admitted to the Muratsan University Hospital with weakness and hyperthermia. Upon examination, the patient's blood glucose level was found to be 51.0mmol/l, the patient was dehydrated, and insulin therapy was started. He was diagnosed with neonatal diabetes and despite the unavailability of genetic testing, a decision was made to change the treatment to Glibenclamide. C-peptide was 0.01ng/ml(N-0.92-3.73) before Glibenclamide treatment and 0.26ng/ml on 1mg/kg/day Glibenclamide together with the same doses of insulin. The diagnosis of Sulfonylurea unresponsive neonatal diabetes was made before the result of genetic testing. As soon as the opportunity arose genetic testing was performed, and a heterozygous KCNJ11 gene mutation of c.149G>C variant in exon 1 was found in the heterozygous state. When the child was 8 months old, he was hospitalized again with the aim of switching to Glibenclamide again, taking into account the results of the genetic analysis and glucose fluctuations from 2.2-32.2 mmol/l during a full feeding. This time there was a response to the treatment, with C-peptide-3.3 ng/ml. The child was discharged with glucose fluctuations from 5.4-8.9 mmol/l. We are in daily contact with the patient.

Conclusion: Neonatal diabetes is a rare form of diabetes. The proper identification and treatment of the disease require a thorough understanding of the underlying genetic causes and the appropriate use of medications like Glibenclamide. This case report highlights the importance of genetic testing in the diagnosis and management of neonatal diabetes. Even if genetic testing is unavailable, starting treatment with Glibenclamide may still be possible as long as regular communication with the patient to prevent the risk of hypoglycemia is maintained.