Congenital hyperinsulinism - two decades of specialized care in a tertiary pediatric hospital

ORIGINAL ARTICLE

Congenital Hyperinsulinism - Two Decades of Specialized Care in a Tertiary Pediatric Hospital

Carolina Ferreira Gonçalves^1,2, Carolina Oliveira Gonçalves^1,3, Cristiana Costa^1,4, Rute Neves⁵, Rosa Pina¹, Catarina Diamantino^1,6, Ana Laura Fitas^1,6, Júlia Galhardo^1,6, Catarina Limbert^1,6, Lurdes Lopes¹.

¹Pediatric Endocrinology and Diabetology Unit, Hospital Dona Estefânia, Centro Hospitalar e Universitário de Lisboa Central, Lisbon, Portugal,
²Pediatric Service, Hospital Dr. Nélio Mendonça, SESARAM EPERAM, Funchal, Portugal,
³Child and Youth Department, Hospital Professor Doutor Fernando Fonseca, EPE, Lisbon, Portugal,
⁴Endocrinology Service, Centro Hospitalar Universitário Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal,
⁵Nutrition and Respiratory Special Care Unit, Hospital Dona Estefânia, Centro Hospitalar e Universitário Lisboa Central, Lisbon, Portugal,
⁶Nova Medical School, Universidade Nova de Lisboa, Lisbon, Portugal.

Show affiliations

Abstract
Introduction: Congenital hyperinsulinism (CHI) is a rare disease, with a variable spectrum of severity. It is the main cause of persistent hypoglycemia in pediatric age patients.
Objective: The aim of this study is to characterize children with CHI followed in a tertiary care hospital.
Methods: Retrospective and descriptive study by consulting clinical files from 2003 to 2023.
Results: Eleven children (5 female). Background: prematurity (n = 2), large for gestational age (LGA) (n= 4). Maternal history: diabetes mellitus (DM) type 1 (n=1), DM type 2 (n=1) and gestational DM (n=1). Initial manifestation: in the neonatal period (n=6); between 4 and 14 months of life (n=5). Among the patients with a later presentation, most (n=4) presented with seizures. In five cases, an associated mutation was identified, two in the KCNJ11 gene, two in the ABCC8 gene, and one in the hexokinase 1 pathway. All patients were started on diazoxide, and in eight it was necessary to replace it with another drug. Two patients underwent subtotal pancreatectomy and were histologically classified as diffuse and atypical, and diffuse, respectively. At follow-up, two patients discontinued drug therapy due to clinical improvement, including one of the patients who underwent surgery. One child continues to have frequent hypoglycemic episodes. The remaining six, with tight therapeutic control, are stable and show good psychomotor development.
Discussion/Conclusion: The diagnosis and follow-up of patients with CHI remain challenging due to the heterogeneity and complexity of this condition.

Why this article important?

Congenital hyperinsulinism is a rare and potentially fatal disease that should be suspected when dealing with patients with persistent and severe hypoglycemia. The diagnosis and treatment is extremely challenging and we want to highlight the need of a correct and early management. It is estimated that about 50% of patients have neurodevelopmental disorders resulting from hypoglycemia-induced neurological sequelae. Early recognition and timely treatment of CHI is, therefore, crucial. The main goal of therapy is the maintenance of normoglycemia (plasma glucose > 70 mg/dL) and the prevention of brain damage We think that knowledge of this pathology and its recognition by pediatricians will be very useful and the initial approach should be taken by them. If differentiated support is needed, recognize that the specialized support by paediatric endocrinology might be asked.

Summary of article

This article is a description of a series of eleven cases of congenital hyperinsulinism in pediatric aged patients, that are followed in a tertiary pediatric hospital. It demonstrates the heterogeneity of this disease and the different therapeutic approaches. Various data were analyzed such as family history, gestational age, birth weight, perinatal risk factors, age and clinical manifestations at presentation, complementary diagnostic exams (including the genetic study), and therapy, including clinical response and adverse effects. A brief discussion was made comparing our data to that found in the literature. On behalf of all the authors, we would like to ask you to consider our manuscript for publication.

READ FULL TEXT

Home

Articles & Issues

About

Contribute

Pediatric Oncall Journal View Article

Home

Partner Sites