hrp0089fc3.6 | Diabetes and Insulin 1 | ESPE2018

Using CRISPR/Cas9 Gene Editing to Study the Molecular Genetics of Congenital Hyperinsulinism

Purushothaman Preetha , Aldossary Ahmad , Guerrini Ileana , Hart Stephen , Hussain Khalid

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused by the disruptio...

hrp0089p3-p112 | Diabetes & Insulin P3 | ESPE2018

Diabetic Ketoacidosis among Egyptian Children with Type 1 Diabetes: 3-Years Study

Karem Mona , Alsabahy Khalid , Elfiky Ahmed , Meshref Ahmed , Akl Heba

Introduction: Diabetic Ketoacidosis (DKA) is one of the acute complications of type 1 diabetes. It is a life-threatening condition that varies in severity and prognosis from patient to another. In Egypt, there is no available data about the socio-demographic characteristics as well as the DKA severity determinants among childrenObjective: 1. To identify demographic, clinical and laboratory variables of pediatric patients diagnosed with DKA at Suez Canal ...

hrp0086fc9.3 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Gastrointestinal Dysmotility and Pancreatic Exocrine Insufficiency as Newly Recognised Possible Features in Two Siblings with Donohue Syndrome

Kostopoulou Eirini , Shah Pratik , Semple Robert , Ahmad Noman , Hussain Khalid

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

hrp0086lbp4 | (1) | ESPE2016

Sirolimus Precipitating Diabetes in a Patient with Congenital Hyperinsulinism due to Autosomal Dominant ABCC8 Mutation

Dastamani Antonia , Guemes Maria , Shah Pratik , Hussain Khalid

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...

hrp0082fc9.2 | Beta cells | ESPE2014

Characterising the Immunohistochemical Expression of Dipeptidyl Peptidase-4 in Pancreatic Tissue from Patients with Diffuse and Focal Congenital Hyperinsulinism

Rahman Sofia , Sherif Maha , Tahir Sophia , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

hrp0082p2-d3-475 | Hypoglycaemia | ESPE2014

Long-Term Follow Up of Children with Congenital Hyperinsulinism on Octreotide Therapy

Demirbilek Huseyin , Shah Pratik , Arya Ved Bhushan , Hussain Khalid

Background: Octreotide, a long-acting somatostatin analogue, is commonly used in diazoxide unresponsive congenital hyperinsulinism (CHI) patients as a second line medication. However, there are no large studies evaluating long-term follow-up CHI patients on octreotide therapy.Objective and hypotheses: To evaluate the dose range, side effects and long-term follow-up in CHI patients on daily octreotide injections.Method: Twenty-eight...

hrp0084p3-1068 | Hypo | ESPE2015

Pancreatic Hormones in Children with Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Gilbert Clare , Morgan Kate , Rahman Sofia , Hussain Khalid

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...

hrp0084p3-1079 | Hypo | ESPE2015

Isolated Postprandial Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Melikyan Maria , Senniappan Senthil , Hussain Khalid

Background: Only a few case reports have described isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in children.Objectives: To describe a single tertiary paediatric centre’s experience in the management of isolated PPHH.Patients and methods: Six children (three females) were identified. A retrospective review of the clinical characteristics, diagnosis, management and follow-up of patients with PPHH was performed. I...

hrp0084p3-1202 | Thyroid | ESPE2015

A Curious Case of Thyrotoxic Crisis and Lower Extremity Weakness in a 15 year-Old Female with Graves’ Disease

Dumin Magdalena , Afzal Khalid , Macmillan Carol , Koren Dorit

Background: Thyrotoxic crisis is a rare, emergent complication of paediatric hyperthyroidism. A rare neurological manifestation of thyrotoxicosis is thyroid myopathy.Objective and hypotheses: We report the case of a female teenager who presented to the Emergency Department with thyrotoxic crisis and lower extremity weakness. Our objective is to discuss the course of thyrotoxic crisis and review potential rare neurological manifestations of thyrotoxicosis...

hrp0097p1-54 | Fat, Metabolism and Obesity | ESPE2023

Early corneal nerve fiber regeneration in children with obesity and impaired glucose tolerance treated with the GLP-1 agonist Liraglutide

Gad Hoda , Dauleh Hajar , Pasha Maheen , A. Malik Rayaz , Hussain Khalid

Background: Glucagon-like peptide-1 receptor (GLP-1R) agonists are approved for the treatment of T2DM and obesity and high dose liraglutide is FDA approved for chronic weight management in pediatric patients aged 12 and older who are obese. GLP-1R may also have a beneficial effect on the central and peripheral nervous system. Corneal Confocal Microscopy (CCM) has been used to show early nerve fiber regeneration in adults with obesity with and without diabetes....