ESPE Abstracts

Background: CHI is a rare condition which can be related to neurological damage due to hypoglycaemic brain injury. Long hospital admissions maybe necessary which can impact babies’ experience of posture and movement, translating to a motor delay. A physiotherapy developmental assessment is a vital part of a multidisciplinary team approach to personalising care. Assessment during admission is essential to provide appropriate developmental support, particu...

Background: In congenital hyperinsulinism (CHI) there is dysregulation of insulin secretion that leads to hypoglycaemia. It is possible that other pancreatic hormones are also dysregulated in CHI.Objectives: i) To verify the utility of Luminex Multiplex to determine pancreatic hormones in the paediatric age. ii) To investigate the response of pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) to a fast in children with CHI due to different...

Background: Hyperinsulinism (HI) is a major cause of hypoglycaemia during childhood and is related with neurological damage. Among the therapeutic options for HI patients with limited fasting tolerance are intensive feeding regimes, requiring continuous overnight and regular daytime feeds via gastrostomy. Two types of gastrostomy device are commonly used: Freka Percutaneous (FPEG) and Mic-key button (MB). MB is expected to have a higher rate of unintentional d...

Introduction: A promoter mutation (c.167G>T) in the phosphomannomutase 2 (PMM2) gene, either homozygous or occurring in trans with a PMM2 coding mutation, causes hyperinsulinism (HI) and polycystic kidney disease (PKD) – HIPKD. Organ-specific deficiency of PMM2 leads to the restricted phenotype of HIPKD, without typical clinical features of the Congenital Disorder of Glycosylation Type 1a (CDG1a), which is caused by recessive coding ...

Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction and both hyperglycaemia as well as hyperinsulinaemic hypoglycaemia (HH) have been reported. Although the mechanism is unclear, autonomic dysfunction may underlie this dysregulation of glucose homeos...

Backgound: There is insufficient knowledge about the characterisation of insulin, glucagon, amylin, pancreatic polypeptide (PP) and Pancreas/Duodenum Homeobox Protein 1 (PDX-1) in pancreatic tissue of children with diffuse (DCHI) and focal (FCHI) congenital hyperinsulinism (CHI).Objective(s): To understand the expression profile and localisation of insulin, glucagon, amylin, PP and PDX-1 in pancreatic tissue of children with DCHI and FCHI.<p class="a...

Objective(s): To understand how plasma concentrations of pancreatic (glucagon, amylin, pancreatic polypeptide (PP), insulin) and gut hormones ‘incretins’ (Glucagon-like peptide 1 (GLP-1) and Glucose dependent insulinotropic peptide (GIP)) change in relation to fasting and feeding (different types of nutrients) in healthy and hyperinsulinaemic hypoglycaemia (HH) children of different ages.Methods: Plasma pancreatic and incretin hormone concentra...

Background: Hyperinsulinaemic hypoglycaemia (HH) is one of the common causes of hypoglycaemia in infants and children. It can cause severe brain injury in children if not treated promptly. Diazoxide is first-line treatment for HH. Glucagon infusion is used in the management of children with HH. However it is unclear what dose of glucagon should be used in children.Objective and hypotheses: To evaluate the efficacy, safety and pharmacokinetics of intraven...

Background: Hyperinsulinaemic hypoglycaemia (HH) is a common cause of hypoglycaemia in children. Glucagon is an important counter-regulatory hormone and the role of somatostatin is not known in children with HH.Objective and hypotheses: To understand the roles of glucagon and somatostatin in children with HH.Method: Children admitted for management of HH in our hospital were included in the study. Plasma insulin, glucagon and somat...

Background: Several previous publications have documented the usefulness of Nifedipine for treating hyperinsulinaemic hypoglycaemia (HI). These reports include transient and persistent forms of HI, with and without known genetics, used in monotherapy or in combination with other drugs, and demonstrate various outcomes.Objective and hypotheses: To systematically trial Nifedipine in children with known HI mutations and diazoxide unresponsive, assessing gly...