EFFECT OF MUTATIONS IN THE CFTR GENE ON COURSE OF CYSTIC FIBROSIS IN CHILDREN


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The genetic study performed in 132 patients with cystic fibrosis. We surveyed patients with cystic fibrosis the most frequent mutation F508del (83,3 %), CFTRdele2,3(21kb) (7,6 %). For carriers of the mutation F508del homo- or heterozygous state, characterized by the predominance of mixed forms, as well as rapid progression of bronchopulmonary process, frequent and early infection with gram-negative flora and the formation of severe liver disease. In patients with mild genotype disease is more favorable than in patients with severemutations.

Bibliografia

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