Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism

Research output: Contribution to journalArticle

  • External authors:
  • I. Banerjee
  • B. Avatapalle
  • R. Padidela

Abstract

Congenital Hyperinsulinism (CHI) is a rare but important cause of hypoglycaemia in infancy. CHI is a heterogeneous disease, but has a strong genetic basis; a number of genetic causes have been identified with CHI in about a third of individuals, chiefly in the genes that code for the ATP sensitive K+ channels (KATP) in the pancreatic β-cells. Rapid KATP channel gene testing is a critical early step in the diagnostic algorithm of CHI, with paternal heterozygosity correlating with the occurrence of focal lesions. Imaging investigations to diagnose and localize solitary pancreatic foci have evolved over the last decade with (18)F-DOPA PET-CT scanning as the current diagnostic tool of choice. Although clinical management of CHI has improved significantly with the application of genetic screening and imaging investigations, much remains to be uncovered. This includes a better understanding of the molecular mechanisms for dysregulated insulin release in those patients without known genetic mutations, and the development of biomarkers that could characterize CHI, including long-term prognosis and targeted treatment planning, i.e. 'personalised medicine'. From the perspective of pancreatic imaging, it would be important to achieve greater specificity of diagnosis not only for focal lesions but also for diffuse and atypical forms of the disease. © 2013 John Wiley & Sons Ltd.

Bibliographical metadata

Original languageEnglish
Pages (from-to)803-813
Number of pages10
JournalClinical Endocrinology
Volume78
Issue number6
DOIs
Publication statusPublished - Jun 2013