Prikaz dvije rijetke mutacije u cisticnoj fibrozi

Cystic fibrosis (CF) is the most frequent autosomal recessive disease of the exocrine glands in the Caucasian population, CF has three main diagnostic criteria: chronic sinopulmonary disease, pancreatic insufficiency and high concentration of chloride in sweat. The gene responsible for CF consists of 27 exons, distributed over 250 kb of the genomic DNA on the long arm of human chromosome 7. The pathophysiological explanation of the disease is the alteration of the protein, 1480 amino acid long named 'cystic fibrosis transmembrane conductance regulator protein (CFTR)'. Two families underwent genetic counselling and the following genotypes were obtained: ΔF508/3849+1G-A (exon 19), ΔF508/E585X (exon 12). Prenatal diagnosis for cystic fibrosis by molecular DNA examinations was performed in one family with genotype ΔF508/E585X. We present our findings on two patients with CF and their families, with the emphasis on one patient with a unique genotype (ΔF508 and E585X). We have indirectly detected this mutation through a healthy heterozygous parents in a patient with severe phenotype and final lethal outcome.