Fibrosis quística

Abstract

Cystic fibrosis is an autosomal recessive disease caused by mutations in the gene encoding the CFTR CI channel. The disease is characterized by chronic infections of the respiratory tract, pancreatic insufficiency, and elevated concentrations of sweat electrolytes. Although cystic fibrosis is a multisystem disease, lung involvement is the major cause of morbidity and mortality. Exocrine pancreatic insufficiency is present in the majority of patients. Until recent, the diagnosis has been based on carefully defined criteria and accurate analysis of sweat CI levels. Now, over nine hundred sequence variations in the CFTR gene has been reported, and the identificaction of mutations in each CFTR gene known to cause cystic fibrosis or in vivo demostration of characteristics in ion transport across the nasal epithelium are also dignostic. The treatment is based in preventive care with close monitoring of nutritional, gastrointestinal, and pulmonary status, to promote normal growth and development in childhood and ongoing health in adulthood.