Liječnički vjesnik, Vol. 134 No. 9-10, 2012.
Pregledni rad
CONGENITAL HYPERINSULINISM – NOVEL INSIGHTS INTO ETIOLOGY, DIAGNOSIS AND TREATMENT
Iva Martinac
Marko Bogović
Stipe Batinica
Vladimir Sarnavka
Sanda Huljev Frković
Toni Matić
Jasminka Jakić-Razumović
Otmar Rubin
Tomislav Luetić
Vesna Kušec
Danijela Petković Ramadža
Davor Begović
Vesna Benjak
Andrea Dasović-Buljević
Anko Antabak
Stanko Ćavar
Dijana Kukin
Suzana Sršen-Medančić
Ivo Barić
Sažetak
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 b-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.
Ključne riječi
Persistent hyperinsulinemia hypoglycemia of infancy – genetics; diagnosis; pathology; therapy
Hrčak ID:
172446
URI
Datum izdavanja:
31.10.2012.
Posjeta: 2.345 *