Review article
Cystic fibrosis
Dorian Tješić-Drinković
Duška Tješić-Drinković
Abstract
Cystic fibrosis is the most common autosomal recessive genetic disease that limits lifespan in white populations. Hundreds of mutations have been discovered, with a huge range of clinical expressions. Identification of subjects with cystic fibrosis and carriers of the mutation enables genetic counseling and disease prevention. Early diagnosis, nowadays often through neonatal screening, allows early multidisciplinary approach with a positive impact on longevity and an increasing number of adult patients. As more patients live longer, the epidemiological indicators change and the number of complications on different organs increase. Standardization of care in cystic fibrosis centers with continuous multidisciplinary and longitudinal follow-up from pediatric age to adulthood contributes largely to better control of the disease and improving the quality of life.
Keywords
cystic fibrosis; pathogenesis; disease presentation; diagnosis, treatment
Hrčak ID:
139011
URI
Publication date:
14.5.2015.
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