Endocrine Abstracts

This case study presentation formed the summative assessment aspect of “The principles of care for the child and young person in Endocrinology” module at London Southbank University. Hyperinsulinaemic Hypoglycaemia (HH), is characterised by the inappropriate secretion of insulin from the pancreatic β-cells in relation to the blood glucose concentration, and is the most common cause of severe and persistent hypoglycaemia in infancy and childhood. Approximately one-third of patients with HH develop some form of developmental delay. Insulin inhibits fatty acid release and ketone body synthesis, the main alternative fuels which protect the brain during hypoglycaemia. Therefore, early recognition and successful management is critical to prevent hypoglycaemic brain injury. The incidence of HH is estimated 1 in 35,000-40,000 and up to 1 in 2500 in areas with higher rates of consanguinity. Mutations in at least 12 different genes involved in β-cell insulin release have been identified so far, including the recent reported co-existence of HH and congenital polycystic kidney disease (PCKD) caused by a promoter mutation in the phosphomannomutase 2 gene (PMM2). This case study demonstrates the effectiveness of Nifedipine therapy in a child with PMM2 mutation. A review of the literature was undertaken to identify effectiveness of L-type calcium channel blockers such as Nifedipine in the treatment of different forms of HH, when used either on its own or in combination with other medications and dietary management. The clinical presentation, diagnosis and medical management of a child with PCKD and HH was reviewed. The role of clinical nurse specialist (CNS), with particular emphasis on the holistic approach to the child and family in relation to the medical and nursing intervention was discussed. To conclude, it was important to reflect on current clinical practices, new therapies in HH and demonstrating openness to new ways of working, that will help to improve our patients and families experience.