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CF (Cystic Fibrosis) is the most common autosomal recessive disease in caucasian population. Inadequate ion transport causes dehydration and the production of thick secretions in organs (most affected: pancreas and lungs). We compare patients between 0-18 years depending on the diagnostic method: neonatal screening (current) versus conventional symptom-oriented diagnosis (prior to 2003). A total of 39 patients (21 boys and 18 girls, median age 8.55 years) were included. 53.8% of the patients were diagnosed by neonatal screening. In the screening group we found greater genetic variability, lower sweat chloride levels, higher vitamin D levels and better nutritional status at time of diagnosis. In their evolution, a better lung function was seen in the screening group. 20.5% of patients present atypical forms of the disease. This group presents milder symptomatology, all of them being sufficient pancreatic at the time of diagnosis. Conclusion: Patients with CF diagnosed through neonatal screening have a better analytical, nutritional and pulmonary status at the onset of the disease and in its evolution. Detection of atypical forms, in a percentage not described before, may explain part of the results found in our study although the benefit of early diagnosis is also seen in the classic forms.


BMI: Body Mass Index; CF: Cystic Fibrosis; CFTR: Cystic Fibrosis Transmembrane Conductance Regulator gene

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