CYSTIC FIBROSIS presentation by Dr.D.Rajan

Cystic fibrosis is genetic pulmonary disease .Treatment is gene therapy and sympotomaric

1. CYSTIC FIBROSIS DR.RAJAN D ASSOCIATE PROFESSOR DEPT OF PULMONOLOGY AZEEZIA MEDICAL COLLEGE

2. DEFINITION Cystic fibrosis is an autosomal recessive genetic disorder characterized by altered function of the exocrine glands affecting primarily lungs, pancreas and sweat glands

3. EPIDEMIOLOGY The frequency of CF is 1 in 2000 to 3000 livebirths,and there are approximately 30000 children and adults with this disease in the United states (cystic fibrosis foundation ,2002). Although CF was once considered a fatal childhood disease ,approximately 38% of people leaving with this disease are 18 years of age or older (cystic fibrosis foundation ,2002).

4. ETIOLOGY/PATHOPHYSIOLOGY Mutation in the gene of long arm of chromosome 7 that encodes for a chloride channel -CFTR (Cystic fibrosis transmembrane conductance regulator)gene. Genetic defect causes increased sodium and chloride content in sweat and increased resorption of sodium and water from respiratory epithelium . Relative dehydration of airway epithelium is thought to predispose to chronic bacterial infection and ciliary dysfunction leading to bronchiectasis.

5. CLINICAL FEATURES RESPIRATORY 1)Infective exacerbations of bronchiectasis 2)Spontaneous Pneumothorax 3)Hemoptysis 4)Nasal polyps 5)Respiratory failure 6) Cor pulmonale 7)Lobar collapse due to secretions

6. GASTROINTESTINAL 1)Malabsorption and steatorrhea 2)Biliary cirrhosis and portal hypertension 3)Distal intestinal obstruction syndrome 4)Gallstones

7. OTHERS 1)Diabetes(25% of adults) 2)Delayed puberty’ 3)Male infertility 4)Stress incontinence due to repeated forced cough 5)Psychosocial problems 6)Osteoporosis 7) Arthropathy 8)Cutaneous vasculitis

8. DIAGNOSIS New born screening test Genetic testing –CFTR gene defect Sweat test –Sweat chloride value >60mEq/L Sputum test-to r/o active infection CT Chest Chest X-Ray- hyperinflated lung,lung fibrosis and scarring

9. MANAGEMENT All patients with cystic fibrosis who produces sputum should perform chest physiotherapy regularly ,more frequently during exacerbations . Regular nebulized antibiotic therapy ( Colistin or Tobramycin)is used between exacerbation to suppress chronic pseudomonas infection .Oral antibiotics for Staph aureus infections. Patients with co existent asthma is treated with inhaled bronchodilators and corticosteroid Allergic bronchopulmonary aspergillosis occurs occasionaly in CF.

10. For advanced CF Lung disease ,home oxygen and NIV may be necessary to treat respiratory failure Lung transplantation shown to have improvement For maintenance treatment have been shown to cause modest rises in lung function and reduce the frequency of exacerbations in CF Patient

11. TREATMENT THAT REDUCE CHEST EXACERBATION AND IMPROVE LUNG FUNCTION IN CF THERAPY Nebulised recombinant human DNase 2.5mg daily Nebulised tobramycin 300mg twce daily given in alternate months Regular oral Azithromycin 500mg 3 times per week Nebulised hypertonic saline,4ml 7%,twice daily PATIENTS TREATED Age>or=5,FVC>40% predicted Patient colonized with pseudomonas aeruginosa Patient colonized with pseudomonas aeruginosa Age>or=6,FEV1>40% predicted

12. NOVEL THERAPIES FOR CF Small molecules designed to correct function of particular CFTR defects are being developed Ivacafter gives significant clinical benefits in patients with G551D mutations Somatic gene therapy for CF is under development Manufactured normal copies of CF genes are packaged in liposomes or virus vectors and administered to airways by aerosol inhalation .

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