RESUMEN
A fibrose cística é a mais frequente doença genética letal da população caucasiana. A doença, descrita em 1938, compromete diferentes sistemas do organismo e evolui de forma crônica e progressiva. Há um transporte anormal de íons através da membrana apical das células epiteliais exócrinas. A apresentação clínica compreende a tríade clássica de: doença pulmonar crônica, insufiência pancreática exócrina e níveis elevados de eletrólitos no suor. Desde a identificação da gen de FC em 1989, avanços têm sido feitos não só na patogênese como no diagnóstico e na terapêutica. Os autores discutem o diagnóstico genético, as formas de apresentação clínica e terapêutica atualizada desta patologia fatal, cuja sobrevida tem aumentado significativamente nos últimos 30 anos.
Cystic Fibrosis (CF) is the most frequently seen lethal genetic disease of Caucasian populations. It was first described in 1938. The disease involves different systems with a chronic and progressive outcome. There is an abnormal transporte of ions trough the apical membrane of exocrine epithelial cells. The common clinical presentation is characterized by the classical triad of chronic obstructive pulmonary disease tippically associated withStaphylococcus aureus and/or Pseudomonas aeruginosa infections; exocrine pancreatic insufficiency and its nutritional consequences; and abnormal sweat chloride level. Diagnosis confirmation requires a positive sweat teste (CI > 60,0mEq/l). Since identification of the gene and cystic fibrosis transmembrane conductance regulator (CFTR) in 1989, research has made advances and changed on the pathogenesis, diagnosis and therapeutic approaches. DNA analyses, with demonstration of two mutations known to be associated with CF, is another diagnostic criterion (genetic diagnosis). With this new diagnostic criterion it is possible to found out CF cases with sweat test bordeline or normal results and patients lacking some diagnostic critera. CF remains a fatal disease, however, the prognosis for survival has improved dramatically over the past 30 years, with a progressively better life quality. Full recovery is the goal of genetic therapy to be achieved in the future.
