RT Journal Article
T1 Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
A1 Sousa Santos, Francisco
A1 Simões, Helder
A1 Castro Feijóo, Lidia
A1 Cabanas Rodríguez, Paloma
A1 Fernández Marmiesse, Ana
A1 Saborido Fiaño, Rebeca
A1 Rego Sanmartín, María Teresa
A1 Carracedo Álvarez, Ángel
A1 Barreiro Conde, Jesús
AB 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.
PB Brazilian Society of Endocrinology and Metabolism
SN 2359-3997
YR 2018
FD 2018
LK http://hdl.handle.net/10347/22266
UL http://hdl.handle.net/10347/22266
LA eng
NO 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
DS Minerva
RD 22 abr 2026