Cystic Fibrosis: Present and Future

Abstract

Cystic fibrosis (CF) is an inherited disorder of epithelial chloride transport affecting primarily pancreas, lungs, gut, liver and exocrine glands. The defect is caused by defects of the cystic fibrosis transmembrane regulation gene on chromosome 7. Genotyping has proved useful in identifying gene carriers, a definitive diagnosis, and in antenatal diagnosis. Genotype/phenotype relationships have shown that the commonest cause of pancreatic insufficiency is the D F508 mutation. Clinical trials are exploring the use of somatic gene therapy but this is not yet a viable treatment option. Liver, lung and intestinal disease result in malnutrition which causes further dysfunction of these organs. Aggressive nutritional and pancreatic enzyme therapy results in improved disease, normal growth and increased survival. However, high-dose enzyme therapy may in some individuals cause a fibrosing colonopathy. For those with end-stage liver and lung disease, transplantation holds out some hope.

Chronic pancreatitis, pseudotumors and other tumor-like lesions

“…In cystic fibrosis that is not caused by the common D F508 mutation but results from other mutations such as R117H mutation, acute pancreatitis may develop. 131 In elderly persons, the pancreas may contain ducts narrowed by ductal papillary hyperplasia, a lesion that has now been termed pancreatic intraepithelial neoplasia type 1B. 132 In association with this lesion, there may be patchy lobular fibrosis in the periphery of the pancreas (Figure 25).…”

Avaliação evolutiva da espirometria na fibrose cística

“…Entretanto, com exceção para insuficiência pancreá-tica e a mutação delta F508, não se tem encontrado nenhuma correlação entre fenótipo e genótipo (14) . Tem-se demonstrado que alguns fatores externos podem influenciar o curso clínico da FC, entre os quais a infecção bacteriana, principalmente por Pseudomonas aeruginosa (15) , e exposição à fumaça de cigarro (16) . No nosso estudo não foi possível mostrar diferenças na função pulmonar conforme a colonização bacteriana, visto que a maioria dos pacientes (94,23%) já mostrava colonização por P. aeruginosa.…”

Comparison of Pantoprazole 20 mg to Ranitidine 150 mg b.i.d. in the Treatment of Mild Gastroesophageal Reflux Disease

“…In subsequent studies, proton pump inhibitors (PPIs) proved their efficacy and safety. Several clinical GERD trials have already shown pantoprazole to be superior to H 2 -receptor antagonists [7, 8, 9, 10, 11, 12, 13, 14]. The proportion of patients relieved of symptoms or healed is significantly higher with PPIs.…”