Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

Flavio Faletra, Emmanouil Athanasakis, Anna Morgan, Xevi Biarnés, Federico Fornasier, Rossella Parini, Francesca Furlan, Arianna Boiani, Arianna Maiorana, Carlo Dionisi-Vici, Laura Giordano, Alberto Burlina, Alessandro Ventura, Paolo Gasparini

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23 Cites (Scopus)


Congenital hyperinsulinism (CHI) is a genetic disorder characterized by profound hypoglycemia related to an inappropriate insulin secretion. It is a heterogeneous disease classified into two major subgroups: channelopathies due to defects in ATP-sensitive potassium channel, encoded by ABCC8 and KCNJ11 genes, and metabolopathies caused by mutation of several genes (GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) and involved in different metabolic pathways. To elucidate the genetic etiology of CHI in the Italian population, we conducted an extensive sequencing analysis of the CHI-related genes in a large cohort of 36 patients: Twenty-nine suffering from classic hyperinsulinism (HI) and seven from hyperinsulinism-hyperammonemia (HI/HA). Seventeen mutations have been found in fifteen HI patients and five mutations in five HI/HA patients. Our data confirm the major role of ATP-sensitive potassium channel in the pathogenesis of Italian cases (~. 70%) while the remaining percentage should be attributed to other. A better knowledge of molecular basis of CHI would lead to improve strategies for genetic screening and prenatal diagnosis. Moreover, genetic analysis might also help to distinguish the two histopathological forms of CHI, which would lead to a clear improvement in the treatment and in genetic counseling.

Idioma originalAnglès
Pàgines (de-a)160-165
Nombre de pàgines6
Estat de la publicacióPublicada - 25 de maig 2013


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