Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disease attributed to autosomal recessive defects on a single gene of chromosome 7. It affects membrane functions in mucus-secreting glands (e.g., sweat glands), the pancreas, and gastrointestinal and respiratory tracts. Diagnosis of CF is suspected in the presence of pancreatitis and chronic or recurrent lung infections in infants or children. Definitive diagnosis may be made with a sweat chloride test. Treatment of CF has improved significantly over the past decades. Patients now routinely live into adulthood, and now more adults are living with CF than children. Family physicians and internists (in partnership with subspecialists) are increasingly involved in the care of patients with this complex condition.

Specific treatment modalities for CF include physical therapy, nutrition therapy, mucolytics, antibiotics, and increasingly, anti-inflammatory therapies. Self-administered airway clearance techniques appear to be as effective as chest physiotherapy (Main et al., 2005). Antibiotics must be broad-spectrum and antipseudomonal agents and often are given in combination during exacerbations or acute infections. In recent years, inhaled tobramycin has become effective antibiotic therapy in bronchiectasis and CF. Aminoglycosides also appear to suppress the expression of the CF transmembrane conductance regulator. Anti-inflammatory therapy includes oral corticosteroids and ibuprofen; azithromycin has both antibiotic and anti-inflammatory properties. Inhaled corti-costeroids, methotrexate, and protease replacement do not appear to be effective (Prescott and Johnson, 2005). Viral vectors or other methods may soon allow delivery of gene therapy directly to the respiratory tract to achieve cure or long-term relapse in CF patients.

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