Saadia R. Akhtar, MD, MSc

Abstract: Although cystic fibrosis (CF) is typically diagnosed during infancy or childhood, it may escape detection until adulthood. Diagnostic accuracy can be sharpened by maintaining a high index of suspicion for CF in an adult who is pancreatic-sufficient but has unexplained recurrent respiratory infections, bronchiectasis, or nutritional deficiencies. The workup begins with the quantitative pilocarpine iontophoresis sweat test. If necessary, additional tests include mutation analysis, full-gene sequencing of CF transmembrane conductance regulator protein, and measurement of nasal transepithelial potential difference. Multidisciplinary care is essential and includes nutritional support, chest physiotherapy, exercise, appropriate antibiotics, and other pulmonary interventions. Dornase alpha, inhaled tobramycin, and azithromycin have been associated with improved outcomes and are considered to be the standard of care for patients with moderate lung involvement. (J Respir Dis. 2006;27(1):32-41)