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Congenital isolated hyperinsulinism

ORPHA657
Synonym(s) CHI
PHHI
Persistent hyperinsulinemic hypoglycemia of infancy
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
or Autosomal dominant
Age of onset Childhood
ICD-10
  • E16.1
OMIM -
UMLS
  • C1257959
MeSH
  • D044903
MedDRA -

Summary

Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).


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Detailed information

Summary information
Review article
  • EN (2011)
Clinical practice guidelines
  • DE (2010)
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