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...

hrp0092rfc9.5 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Spectrum of Neuro-Developmental Disorders in Children with Congenital Hyperinsulinism Due to Activating Mutations in GLUD1

Aftab Sommayya , Gubaeva Diliara , Dastamani Antonia , Sotiridou Ellada , Gilbert Clare , Houghton Jayne , Flanagan Sarah E. , Melikyan Maria , Shah Pratik

Background & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

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...

hrp0086p1-p560 | Perinatal Endocrinology P1 | ESPE2016

Congenital Hyperinsulinism Due to Compound Heterozygous Mutation in ABCC8 and KCNJ11 GENES: 20 Years Experience of A National Referral Centre

Walton-Betancourth Sandra , Shah Pratik , Flanagan Sarah , Ellard Sian , Guemes Maria , Gilbert Clare , Silvera Shavel , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a condition caused by dysregulated insulin secretion. Compound heterozygous mutations in ABCC8 or KCNJ11 genes account for approximately 13% of CHI mutations and have traditionally been associated with diffuse disease unresponsive to diazoxide.Objective and hypotheses: To analyse the clinical presentation and response to treatment of patients diagnosed with CHI due to compound heterozygous...

hrp0084p3-1067 | Hypo | ESPE2015

Discontinuation of Diazoxide Therapy in Children with Hyperinsulinaemic Hypoglycaemia with no Identified Genetic Aetiology: a Long-term Follow-up Study

Al Yahyaei Mouza , Shah Pratik , Guemes Maria , Gilbert Clare , Morgan Kate , Flanagan Sarah , Ellard Sian , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a cause of severe persistent hypoglycaemia in children. Diazoxide is the first line medical therapy for CHI; however diazoxide is usually ineffective in CHI with KATP channel gene mutations. Patients with no mutations in the KATP channel genes do respond to therapy with diazoxide. There are no previous studies assessing how long diazoxide therapy is needed in those patients with no genetic aetiology identifi...

hrp0089fc3.5 | Diabetes and Insulin 1 | ESPE2018

Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia – a 10-year follow-up Study in a Tertiary Centre

Dastamani Antonia , Kostopoulou Eirini , Clements Emma , Caiulo Silvana , Shanmugananda Prateek , Morgan Kate , Gilbert Clare , Dattani Mehul , Flanagan Sarah , Ellard Sian , Hurst Jane , Shah Pratik

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...