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congenital hyperinsulinism

MIM.256450, MIM.601820

congenital hyperinsulinisms, CHI, PHHI, Persistent Hyperinsulinemic Hypoglycemia of Infancy

 

Morphological types

-  diffuse CHI
-  focal CHI

Classification

-  KATP channel-associated hyperinsulinsm (KATP-CHI, ABCC8-CHI, KCNJ11-CHI)

-  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)

References

-  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

-  sur1.org at CHOP, Philadelphia
-  Congenital Hyperinsulism Center at CHOP, Philadelphia
-  Hyperinsulinism at infancy by Dr Loke Kah Yin, National University of Singapore


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