title: Respiratory Conditions Update: Cystic Fibrosis.
abstract: Cystic fibrosis (CF) is an autosomal recessive genetic disease that occurs in approximately 1 in 2,500 white live births. It is less common in nonwhite individuals. A dysfunctional epithelial chloride channel leads to excessively thick mucus affecting multiple organ systems. Common issues include mucous plugging of the airway, lung inflammation, chronic pulmonary infections, intestinal malabsorption, and malnutrition. Universal screening of newborns for CF is recommended in many countries. CF can be diagnosed based on clinical evidence of disease along with genetic testing or other laboratory evidence of chloride channel dysfunction. Pulmonary system dysfunction causes the most morbidity and mortality. Pulmonary function testing is the primary modality used to monitor CF progression. Therapies include chest physiotherapy, mucolytics, antibiotics, anti-inflammatory drugs, targeted therapies, and vaccines. Dysfunction of the exocrine pancreas and gastrointestinal tract leads to malabsorption, malnutrition, and intestinal obstruction. Nutrition should be optimized with adequate calories, pancreatic enzymes, and appropriate dietary supplements. Complications, including acute pulmonary exacerbations, gastrointestinal conditions, chronic rhinosinusitis, CF-related diabetes, osteoporosis, infertility, and psychosocial issues, must be managed. At the appropriate time, lung transplantation and end-of-life issues must be addressed.
authors: Medical University of South Carolina Department of Pediatrics, 96 Jonathan Lucas St #312, Charleston, SC 29425.
authors: Lyle L
authors: LL
authors: Pritchard
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use*; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use*; D035641:Chest Wall Oscillation; D003550:Cystic Fibrosis / Q000150:complications / Q000628:therapy*; D019587:Dietary Supplements; D056947:Enzyme Replacement Therapy; D005100:Expectorants / Q000627:therapeutic use*; D015316:Genetic Therapy; D006801:Humans; D007252:Influenza Vaccines / Q000627:therapeutic use; D007251:Influenza, Human / Q000517:prevention & control; D016040:Lung Transplantation; D044342:Malnutrition / Q000150:complications / Q000628:therapy*; D026741:Physical Therapy Modalities; D022242:Pneumococcal Vaccines / Q000627:therapeutic use; D011018:Pneumonia, Pneumococcal / Q000517:prevention & control; D013727:Terminal Care
chemical_list: D000900:Anti-Bacterial Agents; D000894:Anti-Inflammatory Agents, Non-Steroidal; D005100:Expectorants; D007252:Influenza Vaccines; D022242:Pneumococcal Vaccines