Keywords
Cystic fibrosis
mutations
secretions
multisystemic
treatment
How to Cite
Abstract
Cystic fibrosis, is an autosomal recessive genetic disease, which is caused by mutations in a gene located in the chromosome 7 and that encodes a protein called Transmembrane Conductance Regulator of cystic fibrosis, it is located in numerous epithelia, hence the multisystem involvement, especially in the respiratory, gastrointestinal and genitourinary systems. The diagnosis is usually made or suspected through neonatal screening and is confirmed by studies such as the measurement of chlorine in sweat. The purpose of treatment is based on reducing symptoms, avoiding complications and improving quality of life. Advances in both the diagnosis and treatment, especially of pulmonary and nutritional infections, have led to great improvement in the survival of these patients; therefore, it is not currently considered only a disease of pediatric age, but also a chronic disease that affects to adults.
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