Neonatal diabetes: 20-year experience from a tertiary care pediatric diabetes clinic in north India.

Abstract

Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, typically diagnosed within the first six months of life. While NDM is well-recognized globally, data from India regarding its clinical characteristics, treatment strategies, and long-term outcomes are scarce.

Objectives: To describe the molecular characterization, clinical phenotype and follow-up of children with NDM.

Methods: Data from children diagnosed with NDM between January 2005 and December 2024 were retrospectively analyzed. Genetic testing was performed using standard protocols.

Results: Thirty-two patients (10 females) with NDM, median age at diagnosis 13.2 (range:1.6-36.5) weeks, were identified. Twenty-four patients had diabetic ketoacidosis at diagnosis. Pathogenic genetic variants were confirmed in 25 children, including KCNJ11 (11/25), the INS gene (4/25), and EIF2AK3 (3/25). An empirical sulfonylurea trial was initiated in 22 infants with good response in 13 (12 with variants in the KCNJ11 or ABCC8 genes). HbA1c levels amongst this cohort were significantly better than other genetic variants [41(38,45) versus 75(52, 81) mmol/mol]. At median follow-up of 6.6 years, the mean HbA1c was 56.33±18.55 mmol/mol with two deaths (both EIF2AK3 gene-related).

Conclusions: This study highlights the genetic heterogeneity of NDM in the north Indian population and emphasizes the significance of early genetic testing for personalized management. Empirical sulfonylurea trials proved successful in specific cases, considering that genetic testing is delayed in resource-limited settings.