IMPE Abstracts

Introduction: Monogenic diabetes is uncommon cause of diabetes mellitus (DM) due to single gene mutation and accounts for 1-6% of paediatric diabetes. It includes neonatal DM (NDM), maturity onset diabetes of the young (MODY) and rare diabetes-associated syndromes. They are frequently misclassified as either type 1 or young-onset type 2 diabetes. The genetic confirmation has a substantial impact on clinical management, prognosis and genetic counselling.

Case series: A retrospective analysis of case records of children for monogenic diabetes in a North Indian tertiary care centre was performed. They were categorised into NDM, MODY and syndromic diabetes. We identified 8 children with NDM, 4 with MODY and 3 with syndromic diabetes. Out of 8 NDM cases, 5 had permanent NDM and 3 had transient NDM. All presented within first 6 months of life with 4 of them having diabetic ketoacidosis (DKA) as initial presentation. Genetic analysis could be done only for 7 patients. No mutation could be detected in patients with transient hyperglycemia. Out of 5 permanent NDM, 2 had KCNJ11 gene mutation, 2 had ABCC8 gene mutation and 1 had INS gene mutation. Those with KCNJ11 and ABCC8 mutation achieved euglycemia on sulphonylurea therapy while one with INS mutation was managed with Insulin therapy. A total of 4 cases were diagnosed as MODY with median age of onset being 11.2 years. Two of them were siblings and tested positive for HFN1a mutation (MODY3) along with their mother. They responded well to sulphonylurea despite the mutation being previously described unresponsive to sulphonylurea. Third case was of 11 year old girl who was incidentally diagnosed and tested positive for HFN4a gene mutation (MODY1). She showed poor response to sulphonylurea therapy. Fourth case is of 13 year old boy who was diagnosed with MODY8 (CEL mutation) and is currently being managed with insulin. We had 1 case of mitochondrial disorder (MNGIE syndrome) diagnosed with diabetes at 17 years of age. She was managed with oral hypoglycaemic agents. A 6 year old was diagnosed with Wolfram syndrome (WFS1 mutation) and was managed with basal-bolus insulin therapy. Lastly we had a 13 year old boy with SPINK1 mutation and is being managed with oral hypoglycaemic agents.

Conclusion: It is important to have a high index of suspicion in diagnoses of monogenic diabetes as it has important prognostic, management and genetic implications.