title: [Congenital hyperinsulinism--novel insights into etiology, diagnosis and treatment].
abstract: Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia in the neonatal and early infancy periods. Althought the disease is relatively rare with incidence of about 1:25 000-50 000 live births, the importance of the disease should not be underestimated. Namely, prompt recognition and management of patients with CHI is essential, if permanent neurological impairment is to be avoided. CHI is caused by mutations in one of the 7 genes involved in the regulation of insulin secretion in pancreatic beta-cells. It is important to introduce specific medical therapy as soon as diagnosis is established. Severe, neonatal forms of CHI are often resistant to medications, thus they require surgical procedure. The preoperative genetic testing and scintigraphy are indicated to distinguish histological subtypes of the disease (focal vs. diffuse CHI). Patients with focal disease are usually cured after pancreatic resection, while diffuse disease has much worse prognosis. This manuscript offers novel insights into CHI and emphasizes the role of early diagnosis as crucial for succesful treatment that was recently enriched with novel options.
authors.affiliation: Klinika za pedijatriju Medicinskog fakulteta Sveucilista u Zagrebu, KBC Zagreb.
authors.forename: Iva
authors.initials: I
authors.lastname: Martinac
authors.forename: Marko
authors.initials: M
authors.lastname: Bogović
authors.forename: Stipe
authors.initials: S
authors.lastname: Batinica
authors.forename: Vladimir
authors.initials: V
authors.lastname: Sarnavka
authors.forename: Sanda Huljev
authors.initials: SH
authors.lastname: Frković
authors.forename: Toni
authors.initials: T
authors.lastname: Matić
authors.forename: Jasminka
authors.initials: J
authors.lastname: Jakić-Razumović
authors.forename: Otmar
authors.initials: O
authors.lastname: Rubin
authors.forename: Tomislav
authors.initials: T
authors.lastname: Luetić
authors.forename: Vesna
authors.initials: V
authors.lastname: Kusec
authors.forename: Danijela Petković
authors.initials: DP
authors.lastname: Ramadza
authors.forename: Davor
authors.initials: D
authors.lastname: Begović
authors.forename: Vesna
authors.initials: V
authors.lastname: Benjak
authors.forename: Andrea
authors.initials: A
authors.lastname: Dasović-Buljević
authors.forename: Anko
authors.initials: A
authors.lastname: Antabak
authors.forename: Stanko
authors.initials: S
authors.lastname: Cavar
authors.forename: Dijana
authors.initials: D
authors.lastname: Kukin
authors.forename: Suzana
authors.initials: S
authors.lastname: Srsen-Medancić
authors.forename: Ivo
authors.initials: I
authors.lastname: Barić
mesh_terms: D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn