title: Cystic Fibrosis--clinical features of a sample of Portuguese patients.
abstract: Even though there have been rapid advances in the comprehension of molecular determinants of Cystic Fibrosis, this disease continues to be one of the most common lethal recessive diseases in the Caucasian population worldwide. The reality of Portuguese patients is still greatly unknown, due to the lack of studies published in reference to our population. The objectives of this study were: clinical evaluation of a group of Portuguese patients with Cystic Fibrosis, with two identified mutations; comparing the clinical presentation of a group of homozygous patients for the F508del mutation with patients that are not homozygous for this mutation. A group of patients, followed in Pediatric Pneumology Consultations of S. João Hospital, were characterised in terms of phenotype and were classified according to criteria of severity. All of the patients in this group presented class I and/or II mutations, classically associated with a more severe phenotype. In conformity with the severe genotype, all patients presented a phenotype of pancreatic insufficiency but with greater variability of pulmonary manifestations. Significant variations were not found in terms of age at diagnosis, presenting forms and disease severity between F508del homozygous patients and the other patients. On the other hand, patients with the same genotype (homozygous F508del) presented different spectrums of clinical manifestations and phenotype severity. Just as much, or even more than the genotype characterisation, the time period of evolution of the disease and external factors, namely being subjected to infectious stimulus, interfere in the severity of the phenotype, at a certain moment in time.
authors.affiliation: Paediatrics Department, Hospital de S. João, Porto. mguardiano@hotmail.com
authors.forename: Micaela
authors.initials: M
authors.lastname: Guardiano
authors.forename: Luísa Guedes
authors.initials: LG
authors.lastname: Vaz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011174:Portugal; D012720:Severity of Illness Index
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator