Research
It is important to understand more about low sugars due to Congenital Hyperinsulinism (CHI). Several important advances have happened, with better genetic testing and scanning techniques. We are now able to find out if children have focal or diffuse types of CHI. In spite of recent advances, a lot remains unclear.
It is not clear what exactly happens to the cells in the pancreas that makes them produce so much insulin. We do not understand how low sugars damage the brain and cause lifelong problems. If we understand the condition better, it is likely that we will have better treatment for children with CHI. The Northern Congenital Hyperinsulinism (NORCHI) service and the University of Manchester collaborate closely to find new aspects of the disease that will in time help us understand and treat low sugars more effectively. Your doctor may talk to you about a study called the CHI Pathophysiology Study (CHIPS) which aims to understand many aspects of how disease happens and causes hypoglycaemia.
NORCHI also aims to test new treatment options to better manage low sugars. One example is the use of Polyunsaturated Fatty Acids (PUFA) in the form of fish oils which may reduce disease severity. Another is an international trial of a new insulin antibody which could potentially stop insulin working to reduce sugar levels. Your doctor will give you information about these studies if you wish to take part in research to improve the lives of children with CHI.
Publications
Patient Information Leaflets
- Genes and CHI booklet
- CHI Diagnosis and Treatment
- How Do Low Blood Sugars Occur?
- What is Congenital Hyperinsulinism?
- Central lines, feeding and beyond
- What are the types of CHI?
- Surgery in CHI
Research Publications
The NORCHI team and the Dunne laboratories at the University of Manchester ( https://www.research.manchester.ac.uk/portal/en/researchers/mark-dunne(b96392d7-21bf-490c-8004-4f7ce8293832).html ) have published several papers and presented their data in international conferences. Here is a selection of recent papers, some of which are written jointly with collaborators in Europe and the US.
- Salomon-Estebanez M, Mohamed Z, et al. Vineland Adaptive Behavior Scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI). Orphanet Journal of Rare Diseases 2017
- Salomon-Estebanez M et al. Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet Journal of Rare Diseases 2016
- Szymanowski M et al. mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. Journal of Clinical Endocrinology and Metabolism 2016
- Banerjee I et al. Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patient. Orphanet Journal of Rare Diseases 2017
- Han B et al. Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. American Journal of Clinical Pathology 2016
- Banerjee I et al. Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. Frontiers in Endocrinology 2016
- Ghosh A et al. Recognition, assessment and management of hypoglycaemia in childhood. Archives of Disease in Childhood 2016
- Salisbury R et al. Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel. Diabetes 2015
- Shi Y et al. Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. Journal of Pediatrics 2015
- Skae M et al. Reduced Glycemic Variability in Diazoxide-Responsive Children with Congenital Hyperinsulinism Using Supplemental Omega-3-Polyunsaturated Fatty Acids; A Pilot Trial with MaxEPA(R.). Frontiers in Endocrinology 2014