Objective: Congenital Hyperinsulinism (CHI) is a clinically, genetically and histologically heterogenous diesease. In recent years substantial developements have been observed in the genetics, imaging techniques and treatment options. We herein present the clinical characteristics, genetics and follow-up of 31 CHI patients from a single paediatric endocrine center with a particular emphasis on the new treatment options.
Patients and method: Clinical characteristics, presenting complaints, biochemical features and molecular genetic analysis as well as treatment strategies for patients with CHI were collected from the patients hospital files.
Results: The number of patients recruited was 31(18 females). A mutation was detected in 16 out of 23 (69.5%) patients who underwent genetic testing. Of these 15 had mutation(s) in ABCC8 and one in HADH. All patients with an ABCC8 mutation were diazoxide unresponsive. Five underwent surgery and two patients were managed with sirolimus until the age of 3 and 10 months when sirolimus was stopped due to hepatotoxicity. A post-sirolimus trial of octreotide treatment achieved normoglycaemia, neither patient required pancreatectomy. The eight remaining patients with ABCC8 mutations are also being successfully managed with the long-acting somatostatin analogs, octreotide LAR/lanreotide with no severe side effects. A female with a homozygous ABCC8 mutation developed diabetes at the 4th year of octreotide/LAR treatment, when she was 15 years-old (HbA1c:8%). Hyperglycaemia is now being succesfully managed with dietary intervention. One patient with HADH mutation has protein sensitive, diazoxide responsive CHI. She is currently 8 years-old and has a good neurodevelopemental outcome.
Conclusion: In this series of 31 CHI patients from a single center we detected a mutation in a high proportion of patients who underwent molecular genetics analysis. New therapeutic tools landreotide and sirolimus further improved the prognosis of our patients.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology