title: [Congenital hyperinsulinism--new causes and clinical variations].
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.
authors: Det Sundhedsvidenskabelige Fakultet, Syddansk Universitet, Denmark.
authors: Maria Fuglsang
authors: MF
authors: Bruun
authors: Stine Hedegaard
authors: SH
authors: Christoffersen
authors: Klaus
authors: K
authors: Brusgaard
authors: Sönke
authors: S
authors: Detlefsen
authors: Henrik Thybo
authors: HT
authors: Christesen
mesh_terms: D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype