Hyperinsulinism in infancy: understanding the pathophysiology. Review uri icon

Overview

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.

publication date

  • September 1, 2003

Research

keywords

  • Hyperinsulinism
  • Hypoglycemia

Identity

Scopus Document Identifier

  • 0038721188

Digital Object Identifier (DOI)

  • 10.1016/s1357-2725(03)00103-1

PubMed ID

  • 12798345

Additional Document Info

volume

  • 35

issue

  • 9