hrp0086p1-p556 | Perinatal Endocrinology P1 | ESPE2016

Pancreatic Glucagon Secretion is Severely Impaired and Somatostatin Secretion Unchanged in Patients with Hyperinsulinaemic Hypoglycaemia

Shah Pratik , Rahman Sofia , Gilbert Clare , Morgan Kate , Hinchey Louise , Bech Paul , Amin Rakesh , Hussain Khalid

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...

hrp0086p1-p562 | Perinatal Endocrinology P1 | ESPE2016

Effectiveness of Calcium Channel Blocker Nifedipine in Children with Hyperinsulinaemic Hypoglycaemia Due to Genetically Proven Mutations in the ABCC8/KCNJ11/GCK Genes

Guemes Maria , Shah Pratik , Silvera Shavel , Morgan Kate , Gilbert Clare , Hinchey Louise , Hussain Khalid

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...

hrp0086p1-p566 | Perinatal Endocrinology P1 | ESPE2016

Challenging Management of Costello Syndrome with Severe Congenital Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Shah Pratik , Hinchey Louise , Gilbert Clare , Morgan Kate , Silvera Shavel , Hussain Khalid

Background: Costello syndrome may be associated with Hyperinsulinaemic Hypoglycaemia (HI), but this is usually a mild medically-responsive form.Objective and hypotheses: To describe the clinical characteristics, biochemical findings and challenging management of a case of Costello syndrome with severe HI.Method: Review of the patient’s medical records.Results: Male, born to non-consanguineous healthy par...

hrp0082p2-d3-474 | Hypoglycaemia | ESPE2014

Plasma Glucagon and Somatostatin Levels in Children with Congenital Hyperinsulinism During Hypoglycaemia

Shah Pratik , Mamikunian Gregg , Gilbert Clare , Morgan Kate , Hinchey Louise , Arya Ved , Demirbilek Huseyin , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children, due to dysregulated insulin secretion from pancreatic β-cells. Glucagon, secreted from the pancreatic α-cells, is critical for blood glucose homeostasis. Somatostatin is secreted by Δ-cells of the islets and by extraislet neuroendocrine cells. Exogenous somatostatin potently inhibits insulin and glucagon release from pancreatic islets. Under normal physiological conditions, low...

hrp0082p2-d3-482 | Hypoglycaemia | ESPE2014

Feeding Issues in Children With Congenital Hyperinsulinism

Gilbert Clare , Morgan Kate , Hinchey Louise , Margetts Rebecca , Forsyth Alex , Ryan Martina , Shah Pratik , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in the neonatal period, characterized by unregulated insulin secretion by pancreatic β-cells. In addition to medical therapy, frequent feeding to prevent hypoglycaemia is one of the most important aspects in the management of CHI.Objective and hypotheses: To identify the number of patients with CHI who have associated feeding difficulties and determine ...

hrp0094p1-65 | Diabetes B | ESPE2021

Efficacy of Use of Continuous Glucose Monitoring System in patients with Congenital Hyperinsulinism

Tropeano Yesica , Purushothaman Preetha , Gilbert Clare , Morgan Kate , Doodson Louise , Dastamani Antonia ,

Background: Hypoglycaemic episodes in patients with Congenital Hyperinsulinism (CHI) are not always detected due to the intermittent measurement of blood glucose concentrations, particularly the asymptomatic episodes. Detecting and treating these episodes is important for prevention of hypoglycaemic brain injury. Although the Continuous Glucose Monitoring System (CGMS) is widely used in adults and children with diabetes, the use in patients with CHI remains li...

hrp0095p1-97 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Different types of gastrostomy device in paediatric patients with hyperinsulism.

Beka Elpiniki , Philbin Rory , Cunjamalay Annaruby , Gilbert Clare , Morgan Kate , Dastamani Antonia

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...

hrp0095p1-287 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Hyperinsulinism secondary to PMM2 gene variants: a case series from a quaternary centre reporting associated inflammatory bowel disease and aortopathy.

Shaunak Meera , Bockenhauer Detlef , Flanagan Sarah , Kiparissi Fevronia , Jones Kelsey , Gilbert Clare , Morgan Kate , Dastamani Antonia

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 ...

hrp0092rfc9.4 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre

Bosch Laura , Kallefullah Mohammad Jasmina , Dastamani Antonia , Gilbert Clare , Morgan Kate , Houghton Jayne , Ellard Sian , Flanagan Sarah , Shah Pratik

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...

hrp0089p2-p185 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Nifedipine Therapy in Hyperinsulinaemic Hypoglycaemia Due to Mutations in the PMM2 Gene Improves Fast Tolerance, Stabilises Blood Glucose Profile, and Enables Rationalisation of Treatments for Glycaemic Control and Hypertension: The First Reported Trial in 3 Patients in a Tertiary Centre

Katugampola Harshini , Guemes Maria , Aftab Sommayya , Malhotra Neha , Gilbert Clare , Morgan Kate , Bockenhauer Detlef , Dattani Mehul , Shah Pratik

Background: Hyperinsulinaemic hypoglycaemia (HH) is the most frequent cause of severe and persistent hypoglycaemia in infancy. Prompt recognition and successful management are critical to ensure prevention of hypoglycaemic brain injury and neurological sequelae. The incidence of HH varies from 1:50,000-1:2,500, and mutations in at least 12 different genes involved in β-cell insulin release have been described. Recently, the spectrum of genetic causes for HH has been exten...