congenital hyperinsulinism
MIM.256450, MIM.601820
Morphological types
diffuse CHI
focal CHI
Classification
KATP channel-associated hyperinsulinsm (KATP-CHI, ABCC8-CHI, KCNJ11-CHI)
- focal adenomatous hyperinsulism (focal form)
- diffuse hyperinsulinism
hyperinsulinism/hyperammonemia syndrome (HI/HA or GDH-CHI)
glucokinase-associated CHI (GK-CHI)
SCHAD-associated CHI (short-chain 3-hydroxyacyl-CoA dehydrogenase) (SCHAD-CHI) (14693719)
congenital disorders of glycosylation (CDGs)
- hyperinsulinemic hypoglycemia in congenital disorder of glycosylation Ia (CDG-Ia)
- hyperinsulinemic hypoglycemia in congenital disorder of glycosylation Ib (CDG-Ib) (12872847)
References
Greer RM, Shah J, Jeske YW, Brown D, Walker RM, Cowley D, Bowling FG, Liaskou D, Harris M, Thomsett MJ, Choong C, Bell JR, Jack MM, Cotterill AM. Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. Pediatr Dev Pathol. 2007 Jan-Feb;10(1):25-34. PMID: 17378627
Anlauf M, Wieben D, Perren A, Sipos B, Komminoth P, Raffel A, Kruse ML, Fottner C, Knoefel WT, Monig H, Heitz PU, Kloppel G. Persistent hyperinsulinemic hypoglycemia in 15 adults with diffuse nesidioblastosis: diagnostic criteria, incidence, and characterization of beta-cell changes. Am J Surg Pathol. 2005 Apr;29(4):524-33. PMID: 15767809
Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev. 2004 Jan;84(1):239-75. PMID: 14715916
Suchi M, MacMullen C, Thornton PS, Ganguly A, Stanley CA, Ruchelli ED. Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. Pediatr Dev Pathol. 2003 Jul-Aug;6(4):322-33. PMID: 14692646
de Lonlay P, Touati G, Robert JJ, Saudubray JM. Persistent hyperinsulinaemic hypoglycaemia. Semin Neonatol. 2002 Feb;7(1):95-100. PMID: 12069542
Meissner T, Mayatepek E. Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr. 2002 Jan;161(1):6-20. PMID: 11808881
P.S.
sur1.org at CHOP, Philadelphia
Congenital Hyperinsulism Center at CHOP, Philadelphia
Hyperinsulinism at infancy by Dr Loke Kah Yin, National University of Singapore