Hyperinsulinism of infancy: Localization of focal forms

Olga T. Hardy, Charles A. Stanley

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children (1). Infants with severe forms of the disorder (formerly termed nesidioblastosis) present with hypoglycemia in the newborn period and are at high risk of seizures, permanent brain damage, and retardation. Infants with congenital hyperinsulinism may have either focal or diffuse abnormalities of the pancreatic β cells. In cases with diffuse disease, an underlying defect in the β-cell adenosoine triphosphate (ATP)-dependent potassium channel may be present, caused by recessive loss of function mutations of the two genes encoding the KATP channel, SUR1 or Kir6.2 (1,2). These mutations may also cause focal hyperinsulinism in which there is an area of β-cell adenomatosis due to loss of heterozygosity for the maternal 11p region and expression of a paternally derived KATP channel mutation (3). Most of the cases with severe hyperinsulinism do not respond to medical therapy with diazoxide, octreotide (Fig. 27B.1), or continuous feedings and require near-total pancreatectomy to control hypoglycemia. However, cases of focal hyperinsulinism can be treated effectively with partial pancreatectomy. The surgical approach and therapeutic outcome for the infants depends on preoperatively distinguishing between focal and diffuse forms of hyperinsulinism. This chapter describes the focal lesions of hyperinsulinism, the pancreatectomy procedure, previous methods of determining the site of focal lesions, and the rationale for using positron emission tomography (PET) scans with 18F-fluoro-L-DOPA.

Original languageEnglish (US)
Title of host publicationPediatric PET Imaging
PublisherSpringer New York
Pages479-484
Number of pages6
ISBN (Print)0387288368, 9780387288369
DOIs
StatePublished - 2006

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Hyperinsulinism
Pancreatectomy
Congenital Hyperinsulinism
Hypoglycemia
KATP Channels
Mutation
Nesidioblastosis
Diazoxide
Octreotide
Loss of Heterozygosity
Potassium Channels
Positron-Emission Tomography
Seizures
Mothers
Newborn Infant
Brain
Therapeutics
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hardy, O. T., & Stanley, C. A. (2006). Hyperinsulinism of infancy: Localization of focal forms. In Pediatric PET Imaging (pp. 479-484). Springer New York. https://doi.org/10.1007/0-387-34641-4_27

Hyperinsulinism of infancy : Localization of focal forms. / Hardy, Olga T.; Stanley, Charles A.

Pediatric PET Imaging. Springer New York, 2006. p. 479-484.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hardy, OT & Stanley, CA 2006, Hyperinsulinism of infancy: Localization of focal forms. in Pediatric PET Imaging. Springer New York, pp. 479-484. https://doi.org/10.1007/0-387-34641-4_27
Hardy OT, Stanley CA. Hyperinsulinism of infancy: Localization of focal forms. In Pediatric PET Imaging. Springer New York. 2006. p. 479-484 https://doi.org/10.1007/0-387-34641-4_27
Hardy, Olga T. ; Stanley, Charles A. / Hyperinsulinism of infancy : Localization of focal forms. Pediatric PET Imaging. Springer New York, 2006. pp. 479-484
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