Medfödd hyperinsulinism
En familjär, icke-transient HYPOGLYKEMI med defekter i negativ feedback av glukosreglerad insulinfrisättning. Kliniska fenotyper inkluderar HYPOGLYKEMI; HYPERINSULINEMI; KRAMPER; KOMA; och ofta stor FÖDELSEVIKT. Flera undertyper finns med de vanligaste, typ 1, associerad med mutationer på en ATP-BINDANDE KASSETTTRANSPORTÖRER (underfamilj C, medlem 8).
Förklaring på engelska
A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
Synonym, svenska: Familjär hyperinsulinemisk hypoglykemi 2; Familjär hyperinsulinemisk hypoglykemi 1; Neonatal hyperinsulinism
Synonym, engelska: Congenital Hyperinsulinisms; Hyperinsulinisms, Congenital; Hyperinsulinemia Hypoglycemia of Infancy; Infancy Hyperinsulinemia Hypoglycemias; Hyperinsulinemic Hypoglycemia, Persistent; Hyperinsulinemic Hypoglycemias, Persistent; Hypoglycemia, Persistent Hyperinsulinemic; Hypoglycemias, Persistent Hyperinsulinemic; Persistent Hyperinsulinemic Hypoglycemias; Hyperinsulinism, Congenital; Hyperinsulinism, Familial; Familial Hyperinsulinisms; Hyperinsulinisms, Familial; PHHI Hypoglycemia; Hypoglycemia, PHHI; Hypoglycemias, PHHI; PHHI Hypoglycemias; Hypoglycemia, Hyperinsulinemic, of Infancy; Infancy Hyperinsulinemia Hypoglycemia; Neonatal Hyperinsulinism; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Persistent Hyperinsulinemic Hypoglycemia; Familial Hyperinsulinism; Hyperinsulinism, Neonatal; Hyperinsulinisms, Neonatal; Neonatal Hyperinsulinisms; Hyperinsulinemic Hypoglycemia, Familial, 2; Familial Hyperinsulinemic Hypoglycemia 1; Hyperinsulinemic Hypoglycemia, Familial, 1; Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia
| Svensk term | Medfödd hyperinsulinism |
| Synonym på svenska | Familjär hyperinsulinemisk hypoglykemi 2; Familjär hyperinsulinemisk hypoglykemi 1; Neonatal hyperinsulinism |
| Synonym på engelska | Congenital Hyperinsulinisms; Hyperinsulinisms, Congenital; Hyperinsulinemia Hypoglycemia of Infancy; Infancy Hyperinsulinemia Hypoglycemias; Hyperinsulinemic Hypoglycemia, Persistent; Hyperinsulinemic Hypoglycemias, Persistent; Hypoglycemia, Persistent Hyperinsulinemic; Hypoglycemias, Persistent Hyperinsulinemic; Persistent Hyperinsulinemic Hypoglycemias; Hyperinsulinism, Congenital; Hyperinsulinism, Familial; Familial Hyperinsulinisms; Hyperinsulinisms, Familial; PHHI Hypoglycemia; Hypoglycemia, PHHI; Hypoglycemias, PHHI; PHHI Hypoglycemias; Hypoglycemia, Hyperinsulinemic, of Infancy; Infancy Hyperinsulinemia Hypoglycemia; Neonatal Hyperinsulinism; Persistent Hyperinsulinemia Hypoglycemia of Infancy; Persistent Hyperinsulinemic Hypoglycemia; Familial Hyperinsulinism; Hyperinsulinism, Neonatal; Hyperinsulinisms, Neonatal; Neonatal Hyperinsulinisms; Hyperinsulinemic Hypoglycemia, Familial, 2; Familial Hyperinsulinemic Hypoglycemia 1; Hyperinsulinemic Hypoglycemia, Familial, 1; Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia |
| Engelsk term | Congenital Hyperinsulinism |
| MESH ID | D044903 |