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Archivos de Pediatría del Uruguay

Print version ISSN 0004-0584On-line version ISSN 1688-1249

Abstract

TAMBASCO, Ricardo et al. Congenital hyperinsulinism due to the ABCC8 gene mutation. Arch. Pediatr. Urug. [online]. 2019, vol.90, n.5, pp.276-282.  Epub Oct 01, 2019. ISSN 0004-0584.  http://dx.doi.org/10.31134/ap.90.5.4.

Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in newborns and children at a high risk of irreversible neurological damage. In spite of the recent progress made by the molecular genetics’ genetic base, diagnosis is still often late, given the heterogeneity of this disease.

We hereby report the case of a patient ranging from secondary and difficult to control hypoglycemia to congenital hyperinsulinemia. Her genetic test showed ABCC8 gene mutation.

Keywords : Congenital hyperinsulinism.

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