ABSTRACT
We describe the case of a 44-year-old female cystic fibrosis (CF) patient (R334W/852del22) who presented symptoms of prolonged acute respiratory infections and recurrent episodes of pneumonia. Computed tomography (CT) scan images of the chest showed that the patient presented airway and parenchymal changes throughout both lungs. She also had decreased lung function performances. In March 2004, she underwent live-related donor renal transplant and started an immunosuppressive therapy with cyclosporine. CT scan images taken respectively 2 and 6 years after transplantation documented a progressive significant size reduction of structural lung damages in both lungs and clinical signs and symptoms of improvements.
Subject(s)
Cyclosporine/administration & dosage , Cystic Fibrosis/diagnostic imaging , Immunosuppressive Agents/administration & dosage , Kidney Transplantation , Lung/diagnostic imaging , Adult , Female , Humans , Tomography, X-Ray Computed , Transplantation, HomologousABSTRACT
We genotyped three polymorphisms of the promoter region of the interleukin-10 (IL-10) gene in 220 CF patients from the CF Center of Bari, and tested for an association between genetic variants of the cytokine and chronic airway colonization with Pseudomonas aeruginosa. We found that carriers of the high-IL-10-producing-GCC haplotype had significantly higher risk of chronic pulmonary infection with the pathogen.
Subject(s)
Cystic Fibrosis/genetics , Cystic Fibrosis/immunology , Interleukin-10/genetics , Polymorphism, Single Nucleotide/genetics , Pseudomonas aeruginosa/isolation & purification , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Cystic Fibrosis/microbiology , Female , Genetic Predisposition to Disease/genetics , Haplotypes/genetics , Humans , Male , Middle Aged , Promoter Regions, Genetic/genetics , Pseudomonas Infections/genetics , Pseudomonas Infections/immunology , Pseudomonas aeruginosa/immunology , Young AdultABSTRACT
Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene. While some mutations are common worldwide, the majority are restricted in certain ethnic groups. We have found that in Southern Italy, the 852del22 mutation is well represented with a frequency of 3.5%. We have screened, by reverse dot blot, denaturing gradient gel electrophoresis (DGGE), and gene sequencing, the entire coding regions of CFTR gene in 371 consecutive cystic fibrosis (CF) patients from Southern Italy and have identified 17 patients carrying rare genotypes, among which 13 [6 M; median age 21.7 years (range: 4.5-47.7 years)] carry the 852del22 mutation. To assess the phenotypic expression of CF in patients with the 852del22 mutations we have compared these patients with a group of age and gender matched patients homozygous for the DeltaF508 mutation [n = 34; 19 M; median age 19.9 years (range: 3.8-34.6 years)]. Overall, we found no difference in terms of complications, patient survival (17.6% vs. 30.7%; P = NS), estimated time needed to develop a severe lung disease (22.1 vs. 24.5 years; P = NS), nutritional status, and rate of infection or colonization by most common pathogens between patients in the two groups. Finally, we have found that a late diagnosis was associated with a poor outcome (severe lung disease) regardless of genotype. Our data show that 852del22 mutation results in a phenotypic expression of disease as severe as that determined by the more typical DeltaF508 and, as in the latter case, there is no strict genotype/phenotype correlation.