Analysis of the delta F508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients.

摘要: Sixty-one cystic fibrosis patients admitted for check-up or antibiotic treatment were enrolled genetic and clinical evaluation. Genetic analysis was performed on blood samples stored neonatal screening cards using PCR techniques to determine the presence of DF508 mutations. Clinical evaluation included Shwachman Chrispin-Norman scores, age at onset symptoms diagnosis, spirometry, awake sleep pulse oximetry, hyponychial angle measurement chronic Pseudomonas aeruginosa colonization. Eighteen (29.5%) homozygous mutation, 26 (42.6%) had one mutation 17 (27.9%) noncarriers, corresponding a 50.8% prevalence in whole population. Analysis by Kruskal-Wallis test comparison status with continuous variables chi-square logistic regression dichotomous showed no significant differences between any two groups = 0.05. We conclude that relation is not associated pulmonary as evaluated above