IMPE Abstracts

Congenital hyperinsulinism (CH) is the occurrence of hypoglycemia due to insulin secretion unrelated to glycemic level. The prevalence of this disease is not known in Brazil and there is no report of clinical characteristics of the cases. The Congenital Hyperinsulinism Association (HIC) was created by parents of children with CH. In order to know the clinical and demographic characteristics of children and adolescents with CH, a standard questionnaire was designed to be applied to all CH cases families. In October 2022, HIC has 111 children and adolescents with CH registered. Not all responded fully the questionnaire. Regarding the distribution by sex, 62% are male, born by cesarean section in 69% of cases, with weight ranging from 1000 to 4600 grams (56% between 3000 and 3999 grams), from almost all states of Brazil (30% of São Paulo). Seizures, drowsiness and irritability were the most frequent symptoms at diagnosis, which was made over 1 year of age in 34% of cases. Regarding treatment, 58% use diazoxide through import purchase, followed by Octreotide in 15% and glucagon in 11% of cases. In 40%, families need to acquire medication by their own means. Regarding food, 46% use tubes or gastrostomy and 24% have feeding difficulties. Pancreatectomy was necessary to control the disease in 10% of the series. Two cases were diagnosed and resolved as focal. In 48% of the cases, molecular alterations were found, being ABCC8, KCNJ11 and GLUD 1 the genes with alterations most frequently found. The Brazilian Registry of Congenital Hyperinsulinism showed that males were more prevalent, that a large number of cases are diagnosed late and that despite of diazoxide is not availble in Brazil, more than half of the families are able to acquire the medication via importation. The existence of the association is important to represent the families and the registry, fundamental to know the profile of the children.