Neonatal Diabetes Mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first 6 months of life. These disorders are rare and the incidence is approximately 1 in 90,000 live births. To describe the clinical presentation, molecular genetics and outcome of patients with NDM from a single paediatric endocrine center from a low middle income country. A retrospective study was conducted on patients diagnosed with NDM. Medical records were reviewed for demographic data and data on clinical, biochemical and genetic analysis. 96% of patients who underwent mutation analysis had pathogenic genetic mutations on Sanger sequencing. Permanent NDM (PNDM) was diagnosed in 19 patients with 3 of them having a syndromic diagnosis. The commonest mutation was found in KCNJ11 gene. Majority of the PNDM (63%) presented with severe diabetic ketoacidosis. All patients with Transient NDM (TNDM) remitted by 6 months of age. 47% of the cases with PNDM made a switch to sulfonylurea therapy with good glycemic control (glycosylated Haemoglobin A1C 6-7.5). Data from the Sri Lankan cohort is comparable with other populations. The majority of cases are due to KCNJ11 mutations resulting in PNDM.
Keyphrases
- glycemic control
- klebsiella pneumoniae
- type diabetes
- genome wide
- electronic health record
- copy number
- big data
- end stage renal disease
- physical activity
- blood glucose
- intensive care unit
- newly diagnosed
- emergency department
- chronic kidney disease
- prognostic factors
- early onset
- mental health
- weight loss
- data analysis
- risk factors
- single cell
- intellectual disability
- case report
- mesenchymal stem cells
- drug induced
- machine learning
- insulin resistance
- brain injury
- patient reported outcomes
- bone marrow
- preterm birth
- replacement therapy