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Cystic Fibrosis (CF) – MBBS Final Year Medicine Definition Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutation in the CFTR gene on chromosome 7, leading to defective chloride transport. This causes thick, sticky secretions affecting the lungs, pancreas, liver, intestines, and reproductive tract. --- High-Yield Mnemonic "CF = CLOGGED FLUIDS" C → Chronic lung infections F → Fat malabsorption C → Chloride ↑ in sweat L → Lung bronchiectasis O → Obstruction of pancreatic ducts G → Growth failure G → Gene defect (CFTR) E → Electrolyte loss (salty sweat) D → Diabetes (late complication) --- Genetics Inheritance: Autosomal recessive Gene: CFTR Chromosome: 7 Most common mutation: ΔF508 (Deletion of Phenylalanine at position 508) Easy Trick "7 din se F-508 gayab hai." 7 → Chromosome 7 F508 → Most common mutation --- Pathophysiology Remember: "No Chloride Out → Water Doesn't Follow → Thick Mucus" 1. CFTR defect 2. ↓ Chloride secretion 3. ↑ Sodium absorption 4. Water absorbed into cells 5. Secretions become thick 6. Duct obstruction 7. Infection + inflammation 8. Organ damage --- Organs Affected 1. Respiratory System Thick mucus Chronic cough Recurrent pneumonia Bronchiectasis Wheezing Hemoptysis Respiratory failure Common organisms Staphylococcus aureus Haemophilus influenzae Pseudomonas aeruginosa (adults) Trick "SHP attacks lungs" S = Staph H = H. influenzae P = Pseudomonas --- 2. Pancreas Pancreatic duct obstruction Exocrine pancreatic insufficiency Fat malabsorption Steatorrhea Fat-soluble vitamin deficiency (A, D, E, K) Diabetes mellitus (late) --- 3. Gastrointestinal Meconium ileus (newborn) Distal intestinal obstruction syndrome Constipation --- 4. Liver Biliary cirrhosis Portal hypertension --- 5. Sweat Glands High sweat chloride Salty skin Hyponatremia in hot weather Trick "Kiss of a CF baby tastes salty." --- 6. Reproductive System Male Congenital bilateral absence of vas deferens Infertility Female Thick cervical mucus Reduced fertility --- Clinical Features Respiratory Chronic productive cough Wheezing Breathlessness Recurrent chest infections Bronchiectasis Digital clubbing Gastrointestinal Steatorrhea Failure to thrive Poor weight gain Vitamin deficiency Others Salty sweat Nasal polyps Infertility --- Diagnosis Gold Standard Sweat Chloride Test Chloride ≥60 mmol/L = Diagnostic Other tests Newborn screening (IRT) Genetic testing (CFTR mutation) Chest X-ray / HRCT Pulmonary function tests Sputum culture Fecal elastase (pancreatic insufficiency) Trick "CF = Chloride Full (Sweat chloride ↑)" --- Management 1. Airway Clearance Chest physiotherapy Postural drainage Positive expiratory pressure devices 2. Mucolytics Dornase alfa (DNase) Hypertonic saline nebulization MOA Dornase alfa: Breaks extracellular DNA → decreases sputum viscosity. Hypertonic saline: Draws water into airway → hydrates mucus. --- 3. Antibiotics According to sputum culture Anti-pseudomonal antibiotics when indicated --- 4. Bronchodilators If bronchospasm present --- 5. Pancreatic Enzyme Replacement Therapy (PERT) Lipase Amylase Protease --- 6. Nutritional Support High-calorie diet High-protein diet Fat-soluble vitamins (A, D, E, K) --- 7. CFTR Modulators (Disease-modifying) Drug MOA Ivacaftor Increases opening of CFTR channel Lumacaftor Improves CFTR folding and trafficking Tezacaftor Improves CFTR processing Elexacaftor Improves CFTR function; used in triple therapy Trick "Correct → Potentiate" Correctors = Lumacaftor, Tezacaftor, Elexacaftor Potentiator = Ivacaftor --- 8. Lung Transplant End-stage lung disease --- Complications Bronchiectasis Massive hemoptysis Pneumothorax Respiratory failure Pulmonary hypertension Cor pulmonale Diabetes mellitus Liver cirrhosis Osteoporosis Infertility --- Exam Pearls (Very High Yield) ✅ Autosomal recessive disorder ✅ CFTR mutation on chromosome 7 ✅ ΔF508 is the commonest mutation ✅ Thick mucus due to defective chloride transport ✅ Sweat chloride >60 mmol/L confirms diagnosis ✅ Bronchiectasis + recurrent Pseudomonas infection ✅ Pancreatic insufficiency → steatorrhea + ADEK deficiency ✅ Meconium ileus in neonates ✅ Male infertility (absence of vas deferens) ✅ CFTR modulators: Ivacaftor, Lumacaftor, Tezacaftor, Elexacaftor One-line Revision Trick "CF = 7 → F508 → Thick mucus → Salty sweat → Pseudomonas lungs → Steatorrhea → Sweat chloride >60 → Ivacaftor + Enzymes + Chest physiotherapy." Ye content hai ache se image banao jisme ye saara content cover hona chaie kuch bhi rehna nhi chaie baaki saath he trick add kar do jis se mai aasani se yaad kar saku

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