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

Autor(es)

Liberatore, Jr., Raphael Del Roio ^[1] ; Ramos, Priscila Manzini ^[1] ; Guerra, Jr., Gil ^[2] ; Della Manna, Thais ^[3] ; Silva, Ivani Novato ^[4] ; Martinelli Junior, Carlos Eduardo ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, SP - Brazil

^[2] State Univ Campinas UNICAMP, Dept Pediat, Sch Med Sci, Campinas, SP - Brazil

^[3] Univ Sao Paulo, Hosp Clin, Inst Crianca, Pediat Endocrine Unit, Sao Paulo, SP - Brazil

^[4] Univ Fed Minas Gerais, Dept Pediat, Med Sch, Hosp Clin, Belo Horizonte, MG - Brazil

• Tipo de documento: Artigo Científico
• Fonte: DIABETOLOGY & METABOLIC SYNDROME; v. 7, FEB 18 2015.
• Citações Web of Science: 0

Resumo

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. (AU)

• Processo FAPESP: 11/09355-0 - Hipoglicemia hiperinsulinêmica da infância: análise de dados clínicos e correlação com dados moleculares de amostra brasileira
• Beneficiário: Raphael Del Roio Liberatore Junior
• Modalidade de apoio: Auxílio à Pesquisa - Regular