Kongenitalni hiperinzulinizam - novosti o nastanku, dijagnosticiranju i liječenju bolesti [Congenital hyperinsulinism - novel insights into etiology, diagnosis and treatment]

Martinac, Iva and Bogović, Marko and Batinica, Stipe and Sarnavka, Vladimir and Huljev Frković, Sanda and Matić, Toni and Jakić-Razumović, Jasminka and Rubin, Otmar and Luetić, Tomislav and Kušec, Vesna and Petković Ramadža, Danijela and Begović, Davor and Benjak, Vesna and Dasović-Buljević, Andrea and Antabak, Anko and Ćavar, Stanko and Kukin, Dijana and Sršen-Medančić, Suzana and Barić, Ivo (2012) Kongenitalni hiperinzulinizam - novosti o nastanku, dijagnosticiranju i liječenju bolesti [Congenital hyperinsulinism - novel insights into etiology, diagnosis and treatment]. Liječnički vjesnik, 134 (9-10). pp. 286-292. ISSN 0024-3477

Preview

PDF - Published Version Download (1MB) | Preview

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.

Abstract in Croatian

Kongenitalni hiperinzulinizam (KHI) najčešći je uzrok tvrdokornih hipoglikemija u novorođenačkom i ranome dojenačkom razdoblju. Iako je bolest razmjerno rijetka s pojavnosti od oko 1 : 25 000–50 000 živorođene djece, bolest se ne smije podcijeniti zbog trajnih neuroloških oštećenja do kojih dolazi ako se bolest brzo ne otkrije i ne započne promptno liječiti. Uzrok su mutacije nekog od 7 gena, ključnih u regulaciji inzulinske sekrecije u b-stanicama gušterače. Odmah nakon postavljanja dijagnoze nužno je u terapiju uvesti antihipoglikemike koji djeluju specifično na -stanice gušterače. Kod teških neonatalnih oblika nerijetko postoji rezistencija na antihipoglikemike. Tada preostaje kirurško liječenje prije kojeg je potrebno odrediti histološki oblik bolesti, što se danas uspješno postiže kombinacijom genskog testiranja i scintigrafske pretrage. Kirurškim se zahvatom najčešće postiže izlječenje kod fokalnog KHI, dok difuzni oblik ima lošiju prognozu. Ovaj je tekst pregled novijih spoznaja o KHI, kojim želimo naglasiti važnost što ranijeg postavljanja dijagnoze kao preduvjeta uspješnoga ciljanog liječenja bolesti, koje je posljednjih godina obogaćeno novim mogućnostima.

Actions (login required)

View Item

Downloads