Pancreatic cystic fibrosis of the newborn

Abstract

Objective: To present cases with pancreatic cystic fibrosis (mucoviscidosis) identified in neonatal necropsies and to verify its identification clinical profile. Design: Histologic descriptive, retrospective study with analytical component. Setting: Instituto Nacional Materno Perinatal (INMP), Lima, Peru. Materials: Pancreatic cystic fibrosis lesions in neonates necropsies. Interventions: Series of 17 cases with pancreatic cystic fibrosis (mucoviscidosis) identified by histology, in 144 neonatal necropsies done in the first semester 1995. In such period there were 18 011 live newborns. In order to verify if there was an identification clinical profile in this group we compared it with other three series of autopsies with the same basic cause of death but without mucoviscidosis signs. We used Z distribution to determine difference significance between proportions of the clinical characteristics in both groups. Once established the frequency of affected homozygote newborns in this sample, we determined the frequency of heterozygotes in this population. Main outcome measures: Clinical profile of children with mucoviscidosis and difference with cases with the same basic cause of death but without mucoviscidosis lesions. Results: There were 12% cases of pancreatic cystic fibrosis in 144 necropsies. In relation to 18 011 neonates, there was an approximate frequency of 1/600 cases of pancreatic cystic fibrosis and 1/12 heterozygote newborns. There was no significant difference comparing this group with others with the same basic cause of death but without lesions produced by the disease. Conclusions: The figures found lead to the hypothesis that in the INMP approximately 34 affected newborns with pancreatic cystic fibrosis and 1 800 heterozygotes with one abnormal allele are born per year.