Clinical manifestations of cystic fibrosis in the neonatal period, case report

Abstract

Cystic fibrosis is an autosomal recessive disease, most frequent in white population, with an incidence of 1/3000 – 1/8000. It’s due to a mutation in the gene that codifies cystic fibrosis conductance regulator (CFTR) located in the long arm of chromosome 7 and nowadays ther have been described more tan 2,000 mutations in this gene. The nature of these mutations is related to the clinical manifestations. In newborns and infants gastrointestinal, pancreatic, and hepatic signs and symptoms represent the most common manifestations; 80 to 90% of the infants with meconial ileus have cystic fibrosis. Here we present the case of a newborn apparently healthy, who in his first day of life presented with repetitive vomiting and in his second day of life signs of intestinal obstruction. Exploratory laparotomy revealed thick meconium, we realized approach by CFTR gene sequencing confirming diagnosis of cystic fibrosis, demonstrating the presence of two pathogenic variants.