Nelson Textbook of Pediatrics 22nd Edition | Multisystem disorder of CFTR dysfunction. Pulmonary: chronic cough, wheezing, bronchiectasis, Pseudomonas aeruginosa, Staphylococcus aureus, hemoptysis, pneumothorax, nasal polyps. Gastrointestinal: meconium ileus (15-20% newborns), pancreatic insufficiency (85-90%, steatorrhea, FTT), DIOS (distal intestinal obstruction syndrome), rectal prolapse, biliary cirrhosis, CF-related diabetes (CFRD). Genitourinary: congenital bilateral absence of vas deferens (CBAVD, male infertility). Sweat gland: salty skin, hyponatremic dehydration. Other: digital clubbing, arthropathy, osteopenia, pancreatitis (in pancreatic-sufficient patients).
🌐 paeds.online — Pakistan's Pediatric Platform| System | Key Manifestations | Management |
|---|---|---|
| Pulmonary | Chronic cough, wheeze, bronchiectasis, hemoptysis, pneumothorax, nasal polyps | Airway clearance, dornase alfa, hypertonic saline, azithromycin, CFTR modulators, inhaled tobramycin for P. aeruginosa, bronchial artery embolization for hemoptysis |
| GI / Nutrition | Meconium ileus, pancreatic insufficiency (steatorrhea, FTT), DIOS, cirrhosis, CFRD | Pancreatic enzymes, fat-soluble vitamins, high-calorie diet, PEG for DIOS, insulin for CFRD |
| Genitourinary | CBAVD (male infertility) | Reproductive counseling, assisted reproductive technology |
| Sweat gland | Salty skin, hyponatremic dehydration | Salt supplementation (especially in infants, hot weather) |