Hipoglicemia hyperinsulinemic of infancy: clinical and molecular data from Brazilian cases

• Grant number: 11/09355-0
• Support Opportunities: Regular Research Grants
• Start date: December 01, 2011
• End date: November 30, 2013
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Raphael Del Roio Liberatore Junior
• Grantee: Raphael Del Roio Liberatore Junior
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
• Associated researchers: Carlos Eduardo Martinelli Junior

Abstract

Hypoglycemia hiperinsulinemic is the most common cause of hypoglycemia in the neonatal period and in lactancie. This is theresult of secretion abnormally elevated of insulin without correlation with the glycaemic level. In the age group more attacked, the glucose is the main energy substract to the brain, organ with huge energy demand. This alteration is secondary to mutations in 7 different genes related to the control of insulin secretion. The correct determination of those mutations permits not only the diagnosis, but also the therapeutic response to diaxozido and also the known of the histological form diffuse or focal), with direct consequences over mobidity and mortality. Specific mutations are related to the drugs response. Other mutations, specifically of the genes that encode the K dependent cannal from the B cell, are related to the diffuse or focal forms. The knowledge of the possible histological form permite the decision of surgery to preserve the pancreas, in the focal type. In our country, there are few clinical e almost none konwledge about molecular aspects. The bigest series in the literature add around 100 cases. We are proposing the study of a brazilian serie of patients collected by the participation of some of the most important centers of pediatric endocrinology in Brazil. Still waiting for the cases from 2 big centers, we have at present 46 cases collected and the samples for molecular analysis stocked. We believe that the molecular alterations that will be found, necessarily will not repeat the European or American standard, by the kind of intermarriage of the Brazilian people. We believe that to complete approach of these cases will permit bettertherapeutic option and smaller risk of complications. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

LIBERATORE, JR., RAPHAEL DEL ROIO; RAMOS, PRISCILA MANZINI; GUERRA, JR., GIL; DELLA MANNA, THAIS; SILVA, IVANI NOVATO; MARTINELLI JUNIOR, CARLOS EDUARDO. Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia. DIABETOLOGY & METABOLIC SYNDROME, v. 7, FEB 18 2015. (11/09355-0)