Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia

Raphael Del Roio Liberatore Jr; Priscila Manzini Ramos; Gil Guerra Jr; Thais Della Manna; Ivani Novato Silva; Carlos Eduardo Martinelli Jr

doi:10.1186/1758-5996-7-5

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia

Diabetol Metab Syndr. 2015 Feb 18:7:5. doi: 10.1186/1758-5996-7-5. eCollection 2015.

Authors

Raphael Del Roio Liberatore Jr¹, Priscila Manzini Ramos¹, Gil Guerra Jr², Thais Della Manna³, Ivani Novato Silva⁴, Carlos Eduardo Martinelli Jr¹

Affiliations

¹ Ribeirão Preto Medical School, University of São Paulo, Rua Elzira Sammarco Palma, 400/43, Ribeirão Preto, SP Brazil.
² Department of Pediatrics, School of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP Brazil.
³ Pediatric Endocrine Unit, Instituto da Criança-Hospital das Clínicas, Universidade de São Paulo (USP), São Paulo, SP Brazil.
⁴ Pediatrics Department, Medical School/ Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Abstract

Objective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH).

Methods: Electronic message was sent to members from Endocrinology Department- Brazilian Society of Pediatrics requesting clinical data for all cases of CHH. A whole blood sample from living patients was requested for DNA extraction followed by a search for mutations of the genes ABCC8, KCNJ11, GCK, GLUD1, HADH, SLC16A1 and HNF4A.

Results: Of the 61 patients evaluated, 36 (59%) were boys, and only 16 (26%) were born by normal delivery. Gestational age ranged from 32 to 41 weeks (mean = 37 weeks and 6 days). Birth weight ranged from 1590 to 5250 g (mean = 3430 g). Macrossomia occurred in 14 cases (28%). Age at diagnosis ranged from 1 to 1080 days (mean = 75 days). DNA for molecular analysis was obtained from 53 of the 61 patients. Molecular changes in the ABCC8 gene were detected in 15 (28%) of these 53 cases, and mutations in the KCNJ11 gene were detected in 6 (11%). Mutations in the GLUD1 gene were detected in 9 cases (17%) of the total series. Mutations of the GCK gene in heterozygosis were detected in 3 cases. No mutations were detected in the sequencing of genes HADH, SLC16A1 and HNF4A.

Conclusion: The present study conducted in Brazil permitted the collaborative compilation of an important number of CHH cases and showed that the present clinical and molecular data are similar to those of published global series.

Keywords: Congenital; Hypoglycemia; Neonatal.