Neonatal hyperinsulinism: clinicopathologic correlation

Hum Pathol. 2007 Mar;38(3):387-99. doi: 10.1016/j.humpath.2006.12.007.

Abstract

Neonatal hyperinsulinism is a life-threatening disease that, when treated by total pancreatectomy, leads to diabetes and pancreatic insufficiency. A more conservative approach is now possible since the separation of the disease into a nonrecurring focal form, which is cured by partial surgery, and a diffuse form, which necessitates total pancreas removal only in cases of medical treatment failure. The pathogenesis of the disease is now divided into K-channel disease (hyperinsulinemic hypoglycemia, familial [HHF] 1 and 2), which can mandate surgery, and other metabolic causes, HHF 3 to 6, which are treated medically in most patients. The diffuse form is inherited as a recessive gene on chromosome 11, whereas most cases of the focal form are caused by a sulfonylurea receptor 1 defect inherited from the father, which is associated with a loss of heterozygosity on the corresponding part of the mother's chromosome 11. The rare bifocal forms result from a maternal loss of heterozygosity specific to each focus. Paternal disomy of chromosome 11 is a rare cause of a condition similar to Beckwith-Wiedemann syndrome. A preoperative PET scan with fluorodihydroxyphenylalanine and perioperative frozen-section confirmation are the types of studies done before surgery when needed. Adult variants of the disease are less well defined at the present time.

Publication types

  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Biopsy
  • Congenital Hyperinsulinism* / genetics
  • Congenital Hyperinsulinism* / pathology
  • Congenital Hyperinsulinism* / physiopathology
  • Congenital Hyperinsulinism* / therapy
  • Frozen Sections
  • Humans
  • Infant
  • Infant, Newborn
  • Insulin-Secreting Cells / pathology
  • Islets of Langerhans / pathology
  • Munchausen Syndrome / diagnosis
  • Nesidioblastosis / pathology
  • Pancreas / embryology
  • Potassium Channels / genetics
  • Potassium Channels, Inwardly Rectifying / genetics
  • Receptors, Drug / genetics
  • Sulfonylurea Receptors

Substances

  • ATP-Binding Cassette Transporters
  • Kir6.2 channel
  • Potassium Channels
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors