1. Kongenit hyperinsulinisme-nye årsager og kliniske variationer
- Author
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Bruun, M. F., Christoffersen, S. H., Brusgaard, K., Detlefsen, S., and Henrik Thybo Christesen
- Subjects
Phenotype ,Genotype ,Mutation ,Infant, Newborn ,Humans ,Infant ,Congenital Hyperinsulinism ,Genetic Testing - Abstract
Congenital hyperinsulinism (CHI) is a heterogeneous disease with variable onset, non- or hypoketotic hypoglycaemia, onset from birth to adulthood and a persistent, intermittent, or transient course with possible later conversion to non-autoimmune diabetes. Giving insights to beta cell function, CHI mutations are now known in eight genes (( ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and UCP2 ). However, 40-50% of the patients are still genetically unexplained. CHI can be dominantly or recessively inherited or may occur de novo. A number of syndromes can be associated with CHI.