Cystic fibrosis - clinical and genetic evaluation as an approach for effective prevention

Cystic fibrosis (CF) is a common AR hereditary disease (1:2500 new born). The contemporary attainments in the field of molecular genetic diagnostics of CF create opportunities for effective prevention of the disease. The clinical and genetic evaluation includes the following stages: 1.Clinical diagnosis - based on typical clinical presentation at different ages (neonates, children, adults). 2.Laboratory confirmation of the clinical diagnosis - sweat test performed twice with results over 60 meq/l Cl-. 3.DNA analysis: a) Identified mutations of CFTR gene or polymorphic markers determine the family as "informative" and this makes prenatal diagnosis in next pregnancies possible - secondary prevention. b)Identifying mutations of CFTR gene in a patient with CF makes possible testing for heterozygote status in close relatives, and when such is found prenatal diagnosis is possible - primary prevention. This clinical genetic approach for evaluation was applied to 31 patients with CF and their families. 51 mutations were idnetified - 36 (70.5%) ?F508 and 15 (29.5%) other mutations. Prenatal diagnosis as a secondary prevention was performed in 8 pregnancies in informative families and one was terminated, because the fetus was found to be homozygote. Five of the tested close relatives of patients with CF were found heterozygotes; 3 partners of confirmed hetero zygotes were tested for evaluating the necessity of performing prenatal diagnosis of CF, but all were found healthy homozygotes. In conclusion, the collaboration be tween pediatricians, pulmonologists, gastroenterologists and geneticists will improve the prevention of CF. Scripta Scientifica Medica 2007;39(1):45-47