hrp0086p1-p555 | Perinatal Endocrinology P1 | ESPE2016

Islet of Langerhans in Congenital Hyperinsulinism in Infancy are Disrupted and with Decreased Expression of Collagen (IV) α1 Chain in Basement Membranes

Mal Walaa , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Rigby Lindsey , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. Although CHI arises from mutations in KATP channels which lead to inappropriate insulin secretion, CHI it also is associated with marked changes in islet organization.Aims and objectives: Our aim was to investigate the structure and composition of the islet capsule in CHI and age-matched control tissue.Me...

hrp0086p1-p549 | Perinatal Endocrinology P1 | ESPE2016

Congenital Hyperinsulinism in Infancy: The Profiles of Insulin Secretory Granules are Markedly Different in Focal- and Diffuse β-Cells

Han Bing , Mohamed Zainab , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Rigby Lindsey , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: The mechanisms responsible for inappropriate insulin release from β-cells in congenital hyperinsulinism in infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects is the same in diffuse- and focal disease.Objective and hypotheses: To define the ultrastruct...

hrp0082p2-d3-483 | Hypoglycaemia | ESPE2014

Neurodevelopmental Outcomes in Early and Late Presenting Congenital Hyperinsulinism

Mohamed Zainaba , Nicholson Jacqueline , Zamir Imran , Butler Thomas , Rigby Lindsey , Bowden Louise , Murray Philip , Steele Caroline , Rao Padidela Raja Narender , Patel Leena , Cosgrove Karen , Clayton Peter , Dunne Mark , Banerjee Indraneel

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...

hrp0084lbp-1258 | Late Breaking Posters | ESPE2015

A Distinct Population of Islet Cells Defines Diffuse Congenital Hyperinsulinism in Infancy but not Other Forms of the Disease

Han Bing , Newbould Melanie , Batra Gauri , Cheesman Edmund , Craigie Ross , Mohammad Zainab , Rigby Lindsey , Padidela Raja , Skae Mars , Mironov Aleksandr , Starborg Tobias , Kadler Karl , Cosgrove Karen , Banerjee Indraneel , Dunne Mark

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...