Hyperinsulinism in infancy: understanding the pathophysiology.

K Hussain; A Aynsley-Green

doi:10.1016/s1357-2725(03)00103-1

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Hyperinsulinism in infancy: understanding the pathophysiology.

K Hussain·A Aynsley-Green

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Abstract

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.

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3-Hydroxyacyl CoA Dehydrogenases ATP-Binding Cassette Transporters Blood Glucose Glucokinase Humans Hyperinsulinism Hypoglycemia Infant Infant, Newborn Mutation Potassium Channels Potassium Channels, Inwardly Rectifying Receptors, Drug Sugar Alcohol Dehydrogenases Sulfonylurea Receptors Journal Article Research Support, Non-U.S. Gov't Review

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K Hussain, A Aynsley-Green. 2003. Hyperinsulinism in infancy: understanding the pathophysiology.. https://doi.org/10.1016/s1357-2725(03)00103-1

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