Congenital hyperinsulinism (CHI) is rare disease which prevalence is estimated as 1:2500 to 1:50000 born newborns. Main reason of the disease are genetic mutations in genes responsible for regulation of insulin secretion. First line treatment is diazoxide therapy.
Our patient was diagnosed with CHI at the age of 2 months. Biochemical tests prooved diagnosis of CHI. He presented lack of negative feedback and secreted pathologic amount of insulin during episode of hypoglycemia. We run diagnostic procedure to asses endocrine and metabolic systems which might be a reason of hypoglycaemia. We denied diagnosis of inborn metabolic. We observe good response of counteregulatory hormones. At the beginning he was treated with diazoxide with good effects. Patient achieved normalization of glycemias. Unfortunatelly when a dose of the drug was increased the patient started to present unexpected complications. In december 2017 he had first episode of apnea which were not connected with hypoglycaemia.
Patient run neurological, cardiological, gastroenterological assesment none of abnormalities were found. Apnea's went away when we decreased dose of diazoxide. Since december 2017 the boy presented next 3 episodes of apneas not related with hypoglycemia, they always appeared when the dose of diazoxide was increased (from 3,9 mg/kg/day to 4,9 mg/kg/day). We decided to decrease of diazoxide and implicate some new diet recommendations. Unfortunatelly we didn't achieve good glycemic control, so we decided to increase morning dose of diazoxide. After three days another apnea occured again.
Because of intolerance to diazoxide therapy we decided to change the way of his treatment, removed diazoxide and gave him octreotide in injection four times a day. At the beginning we observed very good reaction and good glycaemic control, after few days we observed tendecies to decreased glycaemia. Because of lack of good response to the sandostatin therapy by itself we decided to mix up to ways of the therapy and nowadays he is treated with diazoxide in smaller doses (3,7 mg/kg) and octreotide given via personal insulin pump (5,7 mcg/kg). Recently he need to take hydrocortisone as well because of adrenal cortex supression caused by octeotide. Currently glycemias are well controlled and no apnea occured again.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology