Abstract

Cystic fibrosis (CF) is the most common life threatining autosomal-recessive disorder in the white population. It is a heterogenous disease which reflects different mutations in “cystic fibrosis transmembrane regulator” (CFTR) gene. The CFTR protein is expressed in pulmonary, gastrointestinal, sweat duct and reproductive epithelial cells, hence the multi-organ nature of disease. The hallmarks of CF lung disease are recurrent infection and neutrophil-mediated inflammation. Although most cases are diagnosed in infancy or childhood, a small, and apparently increasing percentage is diagnosed in adulthood. Also, the life expectancy of patients with CF has been greatly increased over past decades as a result of advanced antibiotic therapy and nutritional support. Typical modes of presentation of CF are meconium ileus, failure to thrive, recurrent pulmonary infections, diarrhoea and steathorea in childhood and recurrent pulmonary infections, bronchiectasis and male infertility in adulthood. The sweat test is still gold standart for the diagnosis of CF. Current CF therapies include; optimizing nutrition and replacement of pancreatic enzymes; clearance of airway secretions with regular physiotherapy and mucolytics; prevention and treatment of infection with antibiotics; and anti-inflammatory agents. All adolescents and adults with bronchiectasis and unexplained chronic lung disease, malabsorption, or both deserve a sweat test as part of their evaluation.