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- W2336427105 abstract "Background: Cystic Fibrosis (CF) is a multisystemic here ditary disease with a significant variability of clinical pre sentation. In Portugal the esteemed prevalence is 1 to 6000 newborns. Objective: To determine the prevalence of CF in the Centre Region of Portugal and characterize clinically and genetically the patient population in this area. Methods: Analysis of the clinical files and records of all the patients with confirmed CF diagnosis followed at two CF refe rence Centers in the Centre Region of Portugal between 1970 and 2008. Results: The prevalence was 1:14000 newborns approxi mately. The onset of the clinical evidence suggestive of CF was variable (pre-natal and 17 years); however, 80% of the patients showed some manifestation of the disease during their first year of life. The mean time interval between onset of symptoms and the diagnosis was 3 years. In most patients diagnosis was suggested by poor weight gain, respiratory infections and chronic cough, although less common forms of clinical presentation occurred in 24% of patients. Molecular analysis showed 11 different mutations, the most frequent being F508del (69% of FC genes) followed by the R334W mutation (12%). Conclusion: The prevalence of CF in the Centre Region of Portugal was below the estimated prevalence for the country. The data collected show a tendency to an early onset of the disease manifestations and draw attention to diagnosis at later ages as well as to less common forms of disease presentation. It is important to raise awareness of this disease among health care professionals." @default.
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- W2336427105 date "2010-01-01" @default.
- W2336427105 modified "2023-09-27" @default.
- W2336427105 title "Cystic fibrosis in the Central Region of Portugal" @default.
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