Actual trends in diagnostics and treatment of congenital hyperinsulinism


Authors: Juraj Staník 1,2;  Martina Škopková 1;  Monika Rosoľanková 3;  Iwar Klimeš 1;  Daniela Gašperíková 1
Authors‘ workplace: DIABGENE & Laboratórium diabetu a porúch metabolizmu, Ústav experimentálnej endokrinológie, Biomedicínske centrum SAV, Bratislava, Slovenská republika 1;  I. detská klinika LF UK a DFNsP, Bratislava, Slovenská republika 2;  Neonatologická klinika intenzívnej medicíny LF UK a DFNsP Bratislava, Slovenská republika 3
Published in: Vnitř Lék 2016; 62(Suppl 4): 103-112
Category: Reviews

Overview

Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycemia in neonates and infants. Early diagnosis and effective treatment (based on the principles of pharmacogenetics) play the key role for the prognosis. The DNA anlysis, which can identify mutation in one of the 11 genes causing MODY, is crutial in the diagnostics. Moreover, The genotype determines also the optimal therapy approach (medicaments, diet or rarely surgery). There was a large progress of novel medicaments treating particularly most severe (diazoxide-resistant) forms of CHI.

Key words:
congenital hyperinsulinism – diazoxid – DNA analysis – hypoglycemia – somatostatine analogues


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