Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

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 sibling...

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Detalles Bibliográficos
Autores principales: Sousa-Santos, Francisco, Simões, Helder, Castro-Feijóo, Lidia, Rodríguez, Paloma Cabanas, Fernández-Marmiesse, Ana, Fiaño, Rebeca Saborido, Rego, Teresa, Carracedo, Ángel, Conde, Jesús Barreiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118649/
https://www.ncbi.nlm.nih.gov/pubmed/30462810
http://dx.doi.org/10.20945/2359-3997000000077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118649/
https://www.ncbi.nlm.nih.gov/pubmed/30462810
http://dx.doi.org/10.20945/2359-3997000000077

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