Background: Congenital Hyperinsulinism (CHI) is the commonest cause of persistent neonatal hypoglycaemia and is characterised by inappropriately detectable plasma insulin during hypoglycaemia. Management depends on the timely analysis of biochemical parameters, which would help initiate appropriate management and avoid potential neurological compromise. The technical difficulties in sending the appropriate sample and the delay in processing the sample in the lab sometimes contribute to the delay in diagnosis of CHI.
Objective and hypotheses: To identify the benefit of rapid biochemical evaluation of plasma insulin and ketones in establishing a diagnosis of CHI.
Method: The hospital database of 50 CHI patients who were managed over the last 12 months in the quaternary centre of CHI was analysed. Blood samples were obtained during controlled hypoglycaemia (blood glucose<3 mmol/l) for evaluation of plasma insulin, 3-β hydroxy butyrate, free fatty acids, cortisol and lab glucose. The time interval between blood sampling and diagnosis of CHI was determined.
Results: 17 patients were diagnosed outside the unit and were excluded. The 33 remaining patients (20 males) were studied. The hypoglycaemia was initially stabilized using high concentration dextrose fluids in all patients. The median age was 7 days at the time of controlled hypoglycaemia screen. The median time interval between controlled hypoglycaemia screen and the diagnosis of CHI was 1 day (range 05). 70% (23 patients) had a diagnosis of CHI confirmed within 2 days and 90.9% (30 patients) within 4 days of the hypoglycaemia screen.
Conclusion: The diagnosis of CHI was confirmed within 2 days in majority of the patients who underwent hypoglycaemia screen. It is important to analyse the lab samples for plasma insulin and ketones as an urgent facility in infants where there is a strong suspicion of CHI. This would aid prompt initiation of treatment for CHI.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology