Background: Early diffuse hyperinsulinism represents a life- and brain-threatening condition. Besides enteral or parenteral additional supply, diazoxide represents the first line treatment. For diazoxide-resistant (DREDHI) patients, ablative surgery exposes to severe local complications, exocrine pancreas insufficiency and diabetes or residual hypoglycaemia.
Objective and hypotheses: To evaluate the pros and cons of non-surgical treatment of DREDHI.
Method: Diazoxide-resistance was defined as persistent hypoglycemia despite 15 mg/kg per day doses. After subcutaneous injections or continuous pump infusion, octreotide was administered as a LA formula by monthly intramuscular injections, excepted in one patient who kept on subcutaneous infusions.
Results: Six patients, three boys and three girls, were followed up. Three had ABCC8 homozygous mutation, one an ABCC8 heterozygous one and one an heterozygous KCNJ11 mutation. Maximal long-acting (LA) somatostatin injections, ranged from 20 to 50 μg/kg per day, according to glycaemia optimization. Carbohydrate supply had to be realized through gastrostomy in 5/6 patients, but maintained only in three younger ones. Clear hypoglycaemias were registered in three patients, fasting hyperglycaemia in two and characteristic diabetes in two respectively, the latter detected at 121/2 and 4 years of age, with 2.7 and 2.1 glycaemia values. LA somatostatin could be stopped in one patient, at the age of 3.3 and 13.4. Follow-up age ranged from 2.9 to 13.8 years. At the last visit, height SDS was normal, but two patients developed obesity (BMI 2.7 and 4.1 S.D.). No clear developmental delay was detected. Severe difficulties of parental origin occurred in two patients.
Conclusions: LA octreotide generally allows to avoid surgery. 2) Non-surgical treatment is very demanding at younger ages. 3) Natural evolution towards diabetes is a possibility. 4) Despite potential effects of somatostatin on GH, growth is preserved. 5) Obesity is to be prevented. 6) The choice of non-surgical treatment is to decide individually, according to parental skills.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology