dr kartik sood

1. MANAGEMENT OF CYSTIC FIBROSIS DR.KARTIK SOOD JUNIOR RESIDENT DEPARTMENT OF PULMONARY MEDICINE

3. Worldwide Most common mutation is (delta)F508 where there is deletion of 508 th amino acid of CFTR.

4. Mutations have been divided into FIVE SEQUENTIAL CLASSES broadly based in the molecular fate of the CFTR. (reviewed by zeitlin ) ( from- adc.bmj.com feb 2009)

5. CLASS 1 MUTATIONS CAUSE DEFECTS IN CFTR SYNTHESIS RESULTING IN ABSENCE OF CFTR PRODUCTION. IN CLASS 2 MUTATIONS , WHICH INCLUDE DELTA F 508, THERE IS PRODUCTION OF ABNORMAL CFTR, WHICH THEN FAILS TO ESCAPE THE ENDOPLASMIC RETICULUM. CLASS 3 MUTATIONS HAVE CFTR PRODUCTION AND INTRACELLULAR TRAFFIKING, BUT THERE IS DISRUPTION OF ACTIVATION AND REGULATION AT THE CELL MEMBRANE.

6. IN CLASS 4 MUTATIONS CFTR IS EXPRESSED AT THE CELL MEMBRANE BUT CHLORIDE CONDUCTANCE IS REDUCED. CLASS 5 MUTATIONS DECREASE MEMBRANE CFTR FUNCTION BY DECREASING SPLICING OF NORMAL CFTR . (recent advances in cf adc.com(arch this child )by lolojmdoull)

7. Diagnosis Criteria Positive Sweat Test: >70 mEq/L Na and Cl Presence of: Chronic Lung disease Failure to Thrive Malabsorption Or Family History of CF

8. Diagnosis Methods Newborn screening: measures immunoreactivetrypsinogen concentration in dried blood spots ( GURTHIE TEST) SWEAT TEST : GOLD STANDARD test for diagnosis .Sweat is stimulated by pilocarpineiontophoresis(a weak electric current aids the penetration of pilocarpine into the skin) and collected on filters. Atleast 100 mg of sweat should be analysed. .

10. Concentration of less than 50 mmol/l is normal.

11. b/w 50 to 70 requires further consideration by genotyping. (crofton)

12. SPIROMETRY

14. CHEST X RAY-Mild hyperinflation and peribronchialthikening Bronchiectactic changes (fishman)

17. TRYPSIN AND CHYMOTRYPSIN IN STOOl-activity is low in stool bcoz of delayed transit time that causes partial inactivation of enzymes.

18. Liver enzymes are often raised

19. Semen analysis – to rule out azoospermia(found in 98% of cf male pts)

21. antibiotics Currently useful agents for treating STAPHYLOCOCCAL infections include DICLOXACILLIN, CEPHALEXIN, the newer CEPHALOSPORINS, CLAVULANIC ACID combinations, and macrolides. Early in the course of the pulmonary disease, a small fraction of PSEUDOMONAS STRAINS may be sensitive to TETRACYCLINE, TRIMETHOPRIM-SULFAMETHOXAZOLE, OR CHLORAMPHENICOL. CIPROFLOXACIN, is initially effective against many strains of pseudomonas and has gained widespread use in the outpatient management of CF

22. Most popular antibiotic combination currently in use is TOBRAMYCIN and CEFTAZIDIME. (tobramycin, 10 mg/kg per day in three divided Doses) patients begin to show improvement after 5 to 7 days,continue antibiotics intravenously or at least 2 weeks in order to decrease the relapse rate and to avoid a decrease in the interval between exacerbations AZITHROMYCIN, 250 mg or 500 mg thrice weekly, was evaluated in CF patients colonized with P. aeruginosa. After 6 months of therapy, patients had an improvement in FEV1 (6.2 percent), increased weight gain, and decreased rates of pulmonary exacerbations. (fishman)

24. N ACETYL CYSTEINE 600 MG TDS

25. HYPERTONIC SALINE NEBULISATION BD

27. Percussion and Vibration Percussion: Clapping with hand in a cupped position loosens secretions Mechanical Vibrations ( shakes whole body) (adc.com)

28. Enzyme Therapy Treatment with enzyme extracts of porcine origin Contain amylase, protease, and lipase Enteric-coated microspheres or microtablets proton pump inhibitor may be used to increase effectiveness

29. Vitamin Therapy Fat soluble vitamin deficiencies common Vitamin A: xeropthalmia Vitamin D: decreased bone density Vitamin E: hematologic and neurologic complications Vitamin K: clotting abnormalities

30. Prognosis Varies greatly Continues to improve Deterioration is inevitable Mortality due to respiratory failure Median survival age 31 years Factors Female Pancreatic insufficiency Respiratory symptoms