Congenital Hyperinsulinism – Most Frequent Cause of Persistent Hypoglycemia in Newborns and Infants

Česká verze

Authors: M. Rosoľanková; E. Franková
Authors place of work: Oddelenie patologických novorodencov a JIRS I. DK, DFNsP, Bratislava zástupca prednostu MUDr. E. Franková
Published in the journal: Čes-slov Pediat 2010; 65 (9): 516-522.
Category: Přehledový článek

Summary

Congenital hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in newborns and infants. The majority of cases refer to inherited disorders of insulin secretion. The most prevalent are the inactivating mutations of genes for Kir6.2 and SUR1 subunits of potassium channel of the B-cells. The true etiology of CHI can be identified only by methods of DNA analysis, which could also distinguish the focal and diffuse form. The treatment is intended to normalize blood glucose and to prevent the neurological consequences.

Key words:
persistent hypoglycemia, congenital hyperinsulinism, DNA analysis, ¹⁸F-DOPA PET CT

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