ECE2017 Eposter Presentations: Diabetes, Obesity and Metabolism Paediatric endocrinology (3 abstracts)
Congenital hyperinsulinism in two siblings due to the same ABCC8 mutation: the clinical importance of an early diagnosis and treatment
Francisco Sousa Santos 1, , Helder Simões 2 , Lidia Castro-Feijóo 3 , Paloma Cabanas Rodríguez 3 , Ana Fernández-Marmiesse 6 , Rebeca Saborido Fiaño 6 , Teresa Rego 4 , Angel Carracedo 5 & Jesús Barreiro Conde 3
1Serviço de Endocrinologia, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal; 2Serviço de Endocrinologia, Instituto Português de Oncologia de Lisboa, Lisboa, Portugal; 3Unidad de Endocrinología Pediátrica y Crecimiento, Pediatría, Hospital Clínico Universitario y Universidad de Santiago de Compostela, IDIS, Santiago de Compostela, Spain; 4Serviço de Endocrinologia, Centro Hospitalar Lisboa Central, Lisboa, Portugal; 5Fundación Publica Galega de Medicina Xenómica, Hospital Clínico Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, Santiago de Compostela, Spain; 6Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
Introduction: Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. It can present as focal or diffuse pancreatic disease, which is mainly determined by the genotype. Diazoxide is the first-line medication in diffuse cases, however many do not respond satisfactory. Second-line options include somatostatin analogues and surgery, which is curative in case of focal CHI.
Case report: We report the case of two siblings that presented with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c3576delG and c742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient no 1 when he was 3 months old) yet responded to somatostatin analogues. Patient no 1 developed various cognitive deficits and epilepsy, however patient no 2 experienced an entirely normal neurodevelopment.
Conclusion: We report the case of two siblings with diazoxide-resistant CHI caused by the same compound ABCC8 mutation (which was never before described, to the best of our knowledge). Their phenotype and therapeutic management had some differences and this could offer a potential explanation for the distinct neurological outcomes, despite the same genetic basis for the disease. Molecular diagnosis and better knowledge of the disease behaviour seemed to contribute to a better medical care in patient no 2, which ultimately resulted in a better outcome. This highlights the importance of early recognition and diagnosis of this disease.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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