Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
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Título: | Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes |
Autor/a: | Sousa Santos, Francisco Simões, Helder Castro Feijóo, Lidia Cabanas Rodríguez, Paloma Fernández Marmiesse, Ana Saborido Fiaño, Rebeca Rego Sanmartín, María Teresa Carracedo Álvarez, Ángel María Barreiro Conde, Jesús |
Centro/Departamento: | Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría |
Data: | 2018 |
Editor: | Brazilian Society of Endocrinology and Metabolism |
Cita bibliográfica: | Sousa-Santos, Francisco, Simões, Helder, Castro-Feijóo, Lidia, Rodríguez, Paloma Cabanas, Fernández-Marmiesse, Ana, Fiaño, Rebeca Saborido, Rego, Teresa, Carracedo, Ángel, & Conde, Jesús Barreiro. (2018). Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. Archives of Endocrinology and Metabolism, 62(5), 560-565. https://doi.org/10.20945/2359-3997000000077 |
Resumo: | 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 siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient number 1) yet responded to somatostatin analogues. Patient number 1 developed various neurological deficits (including epilepsy), however patient number 2 experienced an entirely normal neurodevelopment. We believe this case shows how previous knowledge of the firstborn sibling's disease contributed to a better and timelier medical care in patient number 2, which could potentially explain her better neurological outcome despite their same genotype. |
Versión do editor: | https://doi.org/10.20945/2359-3997000000077 |
URI: | http://hdl.handle.net/10347/22266 |
DOI: | 10.20945/2359-3997000000077 |
ISSN: | 2359-3997 |
E-ISSN: | 2359-4292 |
Dereitos: | ©2018 AE&M. This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited |
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- CFAPXOP-Artigos [199]