Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
SUMMARY Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two...
Main Authors: | Francisco Sousa-Santos, Helder Simões, Lidia Castro-Feijóo, Paloma Cabanas Rodríguez, Ana Fernández-Marmiesse, Rebeca Saborido Fiaño, Teresa Rego, Ángel Carracedo, Jesús Barreiro Conde |
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Format: | Article |
Language: | English |
Published: |
Brazilian Society of Endocrinology and Metabolism
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Series: | Archives of Endocrinology and Metabolism |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000500560&lng=en&tlng=en |
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