Perfil epidemiológico de pacientes com hiperinsulinismo congênito não sindrômico em serviços de referência em endocrinologia pediátrica no Estado da Bahia

Abstract

Introduction: Congenital hyperinsulinism is the leading cause of persistent hypoglycemia in childhood, with symptom onset predominantly within the first 24 hours of life. It is a rare but serious condition due to the risk of permanent neurological damage. Aim: To describe the clinical profile of patients diagnosed with congenital hyperinsulinemic hypoglycemia, followed in two referral pediatric endocrinology centers in the state of Bahia. Method: This is a retrospective observational study of 9 children diagnosed with hypoglycemia and a diagnosis of non-syndromic congenital hyperinsulinism confirmed by at least one critical sample. The PubMed search strategy was used with the terms [MeSH]: "congenital hyperinsulinism”, in the past 10 years, selecting the most representative articles on the subject. Pediatric endocrinology textbooks were also consulted. Result: Among the 9 patients diagnosed with congenital hyperinsulinism, 66.7% were female. Symptom onset was variable, and 55.5% of patients presented with hypoglycemia within the first 24 hours of life. The mean time from symptoms to diagnosis was 10.2 days. Genetic testing was performed in 88.9% of patients, identifying pathogenic variants in heterozygosity in the ABCC8 gene (37.5%), and in homozygosity in the ABCC8 (12.5%), and HADH gene (12.5%). In 3 patients, no pathogenic variants were identified in genes associated with hyperinsulinism in the genetic sequencing. As for treatment, 6 children (66.7%) continued to use somatostatin analogs, 1 (11.1%) diazoxide, 1 (11.1%) underwent partial pancreatectomy and is not taking medication, and 1 (11.1%) was taking lanreotide but was not considered due to loss to follow-up. Conclusion: The absence of pathogenic variants in 37.5% of cases highlights the diagnostic challenge involved in this pathology and suggests that there is room for research into new genes. Early recognition of signs, combined with critical sampling and expanded access to genetic testing, are essential to improve the prognosis of these patients, seeking to reduce the risk of neurological complications and costs associated with late diagnosis. However, the availability of molecular testing is still limited, it is essential to increase accessibility to genetic panels. There are no care protocols in Brazil that provide this treatment. Surgery has shown benefits in cases refractory to clinical treatment.