Congenital hyperinsulinemia occurs due to inappropriate insulin secretion from beta cells of the pancreas. It is the most common cause of resistant and recurrent hypoglycemia in neonates and infants and the threatment is very difficult. Although the incidence is reported as 1/50000, it is seen more frequently in consanguineous countries. Patients may present with lethargy, nourishment, irritability and seizures. If it is not treated, severe hypoglycemia may result in severe neurological damage. High glucose requirement in the diagnosis of congenital hyperinsulinism, detectable insulin level and ketone negativity are the key findings during hypoglisemia. Approximately 45-55% of the patients have an underlying genetic etiology. The most common mutations are ABCC8, KCNJ11, GLUD1 HADH, GCK, SLC16A1 hepatocyte nuclear factor 4 alpha and 1 alpha. In the treatment of drugs such as diazoxide, octreotide, nifedipine may be used, while some patients may require surgical treatment.
Here,the aim of this study was to evaluate the clinical, genetic and therapeutic responses of hyperinsulinemia patients.
Cases: 8 cases of hyperinsulinemia diagnosed and followed in our clinic were evaluated. The age of the patients, their causes, treatment responses, genetic etiology were evaluated. Seven of the patients were diagnosed during neonatal and early infancy. In most of the neonatal cases presented with feeding problems and one of the patient presented with convulsion. In the case of a late diagnosis, the reason for the investigation was the low blood glucose level detected in the routine biochemical evaluation. The patient had motor and mental retardation at the time of diagnosis and it was learned that he was being followed up for autism. Three of the cases were siblings and there were 1 sibling death in the family. He died of multiorgan insufficiency during hospitalization. Most of the patients had a birth weight over 4000 grams.
Three patients received pancreatectomy because of inadequate response to medical treatment. Two patients received additional medical therapies besides diazoxide. In one patient, pulmonary hypertension secondary to diazocyte developed and treatment was replaced with octreotide. Pulmonary hypertension regressed after discontinuation of treatment.
Result: Hyperinsulinemia is more common in countries such as our country where the rate of consanguineous marriage is high. Early detection and treatment of hypoglycemia is very important for the prevention of neurological sequelae. Here, we wanted to draw attention to this group of diseases that are quite difficult to manage.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology