Clinical and laboratory correlations in patients with cystic fibrosis and Pseudomonas aeruginosa infection: The experience of a regional centre.

Pseudomonas aeruginosa (Pa) is the most important pathogen affecting the prognosis of patients with cystic fibrosis (CF). Distinguishing the correlations associated with PA infection may change the way in which investigation and therapeutic plans are approached. This study aims to evaluate the correlations between various factors such as age at diagnosis, nutritional status, homozygous status of delF508 mutation, the number of exacerbations per year, imagistic modifications, the presence of chronic infection with Staphylococcus aureus, serum levels of total immunoglobulins G (IgG) and gammaglobulins and ventilation parameters - forced vital capacity (FVC) and one-second forced expired volume (FEV1) and their association with Pa infection. Methods: The associations between the analyzed parameters have been made by logistic regression; the comparisons between means of continuous variables were performed using Studen t-test; the variables distribution was tested using chi-square-test; and correlations between variables were assessed using Pearson coefficient. Results: The mean age at the acquisition of Pa was 5.26 (±5.3 years). Of the 50 patients included in the study, 21 acquired the Pa infection having the median age of primo-infection of 3 years. The study identified a greater number of exacerbations per year in those infected with Pa (2.71 compared to 1.38 exacerbations per year; p=0.002); the increase of radiological score with 1 unit associated with an increased risk of infection with Pa (OR 1.31; 95% CI 1.10-1.56;p=0.002), the mean Brasfield radiologic score is lower for uninfected children (6.9 vs. 11 points, p=0.001); increasing the degree of bronchiectasis associated with Pa infection (OR 3.75;CI 1.77-7.96;p=0.001); gammaglobulin (15.91 vs. 19.42%;p=0.01) or immunoglobulin G values (IgG) (9.8 vs. 11.9 g/L;p=0.05) were higher for those infected. Conclusions: The increased number of exacerbations per year, the severity of imagistic modifications, and IgG and gammaglobulin values are associated with Pa infection. Tracking these parameters guides the therapeutic conduct.

The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.

BACKGROUND: Cystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene. METHODS: One hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish the frequency of CF mutations in the Romanian population. The chief methods of analysis were polymerase chain reaction (PCR) of DNA extracted from blood and electrophoresis of PCR products. RESULTS: The frequency of F508del in CF chromosomes from Romania is approximately 56.3%. Other frequent mutations noted are: G542X (3.9%), W1282X (2.3%), and CFTRdele2,3(21 kb)(1.6%); the remaining mutations have frequencies below 1%. CONCLUSIONS: We consider that the frequency of F508del in CF patients from Romania is higher than in previous reports, reaching 56.3%, probably owing to more rigorous selection of patients for genetic testing, allowing improved calculation of mutation frequencies.