Hyperinsulinism in infancy: understanding the pathophysiology.
Hyperinsulinism in infancy (HI) is the commonest cause of persistent and recurrent hypoglycaemia in the infancy and childhood period. HI is a heterogeneous disorder with respect to clinical presentation, histology, molecular biology and genetics. Recent advances have provided unique insights into the pathophysiology of this intriguing disease as well as providing an understanding of the normal physiological and biochemical mechanisms regulating insulin secretion from pancreatic beta-cells. The histological differentiation of focal and diffuse forms of HI has radically changed the surgical management to this disease. So far mutations in five different genes have been described which lead to dysregulated insulin secretion from beta-cells. Despite these advances the genetic defect is still unknown in about 60% of cases.
Hussain
K
K
The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK. k.hussain@ich.ucl.ac.uk
Aynsley-Green
A
A
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics / Q000378:metabolism; D018528:ATP-Binding Cassette Transporters; D001786:Blood Glucose / Q000378:metabolism; D005941:Glucokinase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000201:enzymology*; D007003:Hypoglycemia / Q000201:enzymology* / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics / Q000378:metabolism; D011955:Receptors, Drug; D013401:Sugar Alcohol Dehydrogenases / Q000235:genetics / Q000378:metabolism; D064233:Sulfonylurea Receptors
D018528:ATP-Binding Cassette Transporters; D001786:Blood Glucose; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D013401:Sugar Alcohol Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases; C095946:galactitol 2-dehydrogenase; D005941:Glucokinase