Study on Cystic Fibrosis Evolution in Children

Abstract

Cystic fibrosis (CF) or mucoviscidosis, although considered a rare disease, is the most common genetic disease with autosomal recessive transmission of the Caucasian race. The study included 13 children aged between 0 and 18 years diagnosed with CF between 01.01.2000 and 31.12.2018, being recorded, monitored and treated in the Regional Center for CF Craiova from the Pediatrics II Clinic, County Emergency Clinical Hospital Craiova, Romania. For each patient we evaluated the following parameters: the year of CF diagnosis, the age at diagnosis, sex and environment of origin, clinical manifestations at onset, evolution of treatment cases by 2018. Of the 13 children with CF in study, most of them (11) are male. The most common clinical manifestations were the respiratory ones. Genetic tests were performed on all children, highlighting that 6 out of 13 children were homozygous �F508 and 2 children had mutations not genetically identified, requiring sequencing.