CYSTIC FIBROSIS Dr S Sen Specialist Registrar North Western Deanery
SUMMARY <ul><li>DEFINITION </li></ul><ul><li>PATHOGENESIS/GENETICS </li></ul><ul><li>DIAGNOSIS/PRESENTATION </li></ul><ul>...
DEFINITION <ul><li>Inherited multisystem disorder of children and adults characterized chiefly by chronic obstruction and ...
Pathogenesis <ul><li>CFTR-Abnormal function </li></ul><ul><li>Abnormalities of C-amp mediated Cl conductance </li></ul><ul...
GENETICS
GENETICS[contd] <ul><li>70% delta F 508 </li></ul><ul><li>Autosomal recessive </li></ul><ul><li>UK-1 in 25-carrier </li></...
DIAGNOSIS <ul><li>NEONATAL SCREENING </li></ul><ul><li>CLINICAL PRESENTATION </li></ul>
Neonatal Screening <ul><li>Guthrie card </li></ul><ul><li>Immunoreactive trypsin </li></ul><ul><li>Genotyping </li></ul>
Clinical presentation <ul><li>Meconium ileus </li></ul><ul><li>Chest infections </li></ul><ul><li>Intestinal malabsorption...
 
Cl symp//  FH//+ve screen further tests if S/S Add cl feat Dx conf No CFTR 1 CFTR 2 CFTR genotype Dx conf Cl  40-60 Cl>60 ...
After diagnosis <ul><li>Communication </li></ul><ul><li>Home visit-CF nurse specialist </li></ul><ul><li>Introduction to t...
Management- general precautions <ul><li>Immunization </li></ul><ul><li>Smoking-personal/second hand </li></ul><ul><li>Prec...
Management-CHEST <ul><li>Physiotherapy </li></ul><ul><li>Antibiotics </li></ul><ul><li>Bronchodilators </li></ul><ul><li>M...
Physiotherapy <ul><li>Chest Physiotherapy </li></ul><ul><li>Physical activity </li></ul>
Antibiotics <ul><li>Improved outlook </li></ul><ul><li>Prophylactic antibiotics-fluclox </li></ul><ul><li>Viral URTI-H inf...
Pulmonary exacerbations <ul><li>Cough </li></ul><ul><li>Lethargy </li></ul><ul><li>Loss of appetite </li></ul><ul><li>Chan...
IV Antibiotics <ul><li>Choice of antibiotics </li></ul><ul><li>Dose </li></ul><ul><li>Duration </li></ul><ul><li>Home trea...
Pseudomonas Aeruginosa <ul><li>Colonization </li></ul><ul><li>Ciprofloxacin </li></ul><ul><li>Colomycin-neb </li></ul><ul>...
Bronchodilators <ul><li>50% of CF pts-some degree of bronchial lability </li></ul><ul><li>Before physiotherapy </li></ul>
Anti inflammatory <ul><li>Steroids-Inhaled,oral </li></ul><ul><li>Oral steroids and DM </li></ul><ul><li>Other anti-inflam...
Reducing sputum viscosity <ul><li>Saline </li></ul><ul><li>N-acetyl cysteine-mucolytic </li></ul><ul><li>Recombinant DNase...
Complications-chest <ul><li>Atelectasis-IV ABX, PT </li></ul><ul><li>Hemoptysis-if large VITK, blood, broch.art embolisati...
GI & Nutrition-management <ul><li>Pancreatic enzyme supplements </li></ul><ul><li>Vitamins </li></ul><ul><li>Dietary suppl...
GI Complications <ul><li>Meconium ileus-gastrograffin,surgery </li></ul><ul><li>DIOOS/MIE-Klean prep,gastrograffin,review ...
Complications[contd] <ul><li>Diabetes Mellitus </li></ul><ul><li>30% at 25 yrs </li></ul><ul><li>Oral steroids </li></ul><...
Psychosocial problems <ul><li>Patient & Family </li></ul><ul><li>Esp critical times </li></ul><ul><li>Counseling.emotional...
Other problems <ul><li>Nasal polyps-local steroids,surgery </li></ul><ul><li>Salt depletion-warm weather-free access to sa...
Pregnancy & Fertility <ul><li>Men-infertile, aspirate sperm-IVF </li></ul><ul><li>Women-sub fertile </li></ul><ul><li>Wome...
ANTENATAL DIAGNOSIS <ul><li>GENETIC COUNCILLING </li></ul><ul><li>Chorionic biopsy –9 weeks </li></ul><ul><li>Pre-implanta...
Mange ment [contd] <ul><li>Shared care-local hosp & CF unit </li></ul><ul><li>Annual assessment at the sp. Centre </li></u...
CF annual assessment <ul><li>Examination </li></ul><ul><li>Anthropomorphics </li></ul><ul><li>Lung FT </li></ul><ul><li>Ph...
PROGNOSIS <ul><li>Life limiting disorder </li></ul><ul><li>Mean survival- </li></ul><ul><li>Survival from 20-90%-if picked...
FUTURE-gene therapy <ul><li>Transfer of a normal copy of a gene to a cell which has 2 abnormal copies </li></ul><ul><li>Ar...
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Cystic Fibrosis

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A presentation giving an overview of a common chest problem in the west.

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Cystic Fibrosis

  1. 1. CYSTIC FIBROSIS Dr S Sen Specialist Registrar North Western Deanery
  2. 2. SUMMARY <ul><li>DEFINITION </li></ul><ul><li>PATHOGENESIS/GENETICS </li></ul><ul><li>DIAGNOSIS/PRESENTATION </li></ul><ul><li>GENERAL MANGEMENT </li></ul><ul><li>MANAGEMENT OF COMPLICATIONS </li></ul><ul><li>OTHER ISSUES </li></ul><ul><li>PROGNOSIS </li></ul>
  3. 3. DEFINITION <ul><li>Inherited multisystem disorder of children and adults characterized chiefly by chronic obstruction and infection of airways and by maldigestion and its consequences </li></ul>
  4. 4. Pathogenesis <ul><li>CFTR-Abnormal function </li></ul><ul><li>Abnormalities of C-amp mediated Cl conductance </li></ul><ul><li>CF cells-limited ability to secrete Cl, absorb Na in excess </li></ul><ul><li>Water follows Na- secretions more viscid </li></ul><ul><li>Thick secretions block the lumen </li></ul>
  5. 5. GENETICS
  6. 6. GENETICS[contd] <ul><li>70% delta F 508 </li></ul><ul><li>Autosomal recessive </li></ul><ul><li>UK-1 in 25-carrier </li></ul><ul><li>Incidence-1 in 2500 </li></ul>
  7. 7. DIAGNOSIS <ul><li>NEONATAL SCREENING </li></ul><ul><li>CLINICAL PRESENTATION </li></ul>
  8. 8. Neonatal Screening <ul><li>Guthrie card </li></ul><ul><li>Immunoreactive trypsin </li></ul><ul><li>Genotyping </li></ul>
  9. 9. Clinical presentation <ul><li>Meconium ileus </li></ul><ul><li>Chest infections </li></ul><ul><li>Intestinal malabsorption </li></ul><ul><li>Poor growth </li></ul><ul><li>Asthma </li></ul><ul><li>Family history </li></ul><ul><li>Nasal polyps </li></ul><ul><li>Rectal prolapse </li></ul><ul><li>Salt loss </li></ul><ul><li>Conductive hearing loss </li></ul><ul><li>Sinusitis </li></ul>
  10. 11. Cl symp// FH//+ve screen further tests if S/S Add cl feat Dx conf No CFTR 1 CFTR 2 CFTR genotype Dx conf Cl 40-60 Cl>60 Rpt if S/S Rpt Rpt Cl<40 Cl 40-60 Cl>60 Sweat test
  11. 12. After diagnosis <ul><li>Communication </li></ul><ul><li>Home visit-CF nurse specialist </li></ul><ul><li>Introduction to the CF team </li></ul><ul><li>CF support groups </li></ul>
  12. 13. Management- general precautions <ul><li>Immunization </li></ul><ul><li>Smoking-personal/second hand </li></ul><ul><li>Precautions against viral infections </li></ul><ul><li>Crèche,exposure to inf persons </li></ul><ul><li>Avoidance of stables </li></ul><ul><li>Acyclovir to treat chicken pox </li></ul>
  13. 14. Management-CHEST <ul><li>Physiotherapy </li></ul><ul><li>Antibiotics </li></ul><ul><li>Bronchodilators </li></ul><ul><li>Mucolytics </li></ul><ul><li>Anti inflammatory </li></ul>
  14. 15. Physiotherapy <ul><li>Chest Physiotherapy </li></ul><ul><li>Physical activity </li></ul>
  15. 16. Antibiotics <ul><li>Improved outlook </li></ul><ul><li>Prophylactic antibiotics-fluclox </li></ul><ul><li>Viral URTI-H influ,S pneu </li></ul><ul><li>IV antibiotics if symptoms continue </li></ul><ul><li>Regular use of IV antibiotics </li></ul>
  16. 17. Pulmonary exacerbations <ul><li>Cough </li></ul><ul><li>Lethargy </li></ul><ul><li>Loss of appetite </li></ul><ul><li>Change in colour of sputum </li></ul><ul><li>Reduction in PEFR/FEV1 </li></ul><ul><li>+/- Auscultatory findings/chest X-ray changes </li></ul>
  17. 18. IV Antibiotics <ul><li>Choice of antibiotics </li></ul><ul><li>Dose </li></ul><ul><li>Duration </li></ul><ul><li>Home treatment </li></ul><ul><li>Venous access devices </li></ul>
  18. 19. Pseudomonas Aeruginosa <ul><li>Colonization </li></ul><ul><li>Ciprofloxacin </li></ul><ul><li>Colomycin-neb </li></ul><ul><li>Tobramycin nebulised </li></ul><ul><li>IV antibiotics </li></ul>
  19. 20. Bronchodilators <ul><li>50% of CF pts-some degree of bronchial lability </li></ul><ul><li>Before physiotherapy </li></ul>
  20. 21. Anti inflammatory <ul><li>Steroids-Inhaled,oral </li></ul><ul><li>Oral steroids and DM </li></ul><ul><li>Other anti-inflammatory drugs </li></ul>
  21. 22. Reducing sputum viscosity <ul><li>Saline </li></ul><ul><li>N-acetyl cysteine-mucolytic </li></ul><ul><li>Recombinant DNase </li></ul><ul><li>Amiloride </li></ul><ul><li>Others </li></ul>
  22. 23. Complications-chest <ul><li>Atelectasis-IV ABX, PT </li></ul><ul><li>Hemoptysis-if large VITK, blood, broch.art embolisation </li></ul><ul><li>Pneumothorax-conservative,pleurodesis </li></ul><ul><li>Allergic aspergillosis-corticosteroids, refractory cases-antifungals </li></ul><ul><li>Resp Failure-acute & chronic </li></ul><ul><li>Right sided heart failure </li></ul>
  23. 24. GI & Nutrition-management <ul><li>Pancreatic enzyme supplements </li></ul><ul><li>Vitamins </li></ul><ul><li>Dietary supplements </li></ul><ul><li>Regular dietetic review </li></ul><ul><li>Monitor plasma levels+ PT </li></ul><ul><li>Constipation-lactulose/senna </li></ul>
  24. 25. GI Complications <ul><li>Meconium ileus-gastrograffin,surgery </li></ul><ul><li>DIOOS/MIE-Klean prep,gastrograffin,review of enzymes,antacids or H2 antagonists </li></ul>
  25. 26. Complications[contd] <ul><li>Diabetes Mellitus </li></ul><ul><li>30% at 25 yrs </li></ul><ul><li>Oral steroids </li></ul><ul><li>>12 yrs- annual GTT </li></ul><ul><li>Oral hypoglycaemic agents </li></ul><ul><li>Insulin </li></ul><ul><li>Liver Disease </li></ul><ul><li>20%-minor abnormalities of LFT </li></ul><ul><li>5%-liver disease </li></ul><ul><li>Ursodeoxycholic acid </li></ul><ul><li>Oesophageal varices-sclerosing injections </li></ul><ul><li>Liver transplant </li></ul><ul><li>Annual LFT </li></ul>
  26. 27. Psychosocial problems <ul><li>Patient & Family </li></ul><ul><li>Esp critical times </li></ul><ul><li>Counseling.emotional support,advice on benefits </li></ul><ul><li>Liason with other agencies </li></ul><ul><li>Adolescence-independence,noncompliance </li></ul><ul><li>Psychosocial report for transplant </li></ul>
  27. 28. Other problems <ul><li>Nasal polyps-local steroids,surgery </li></ul><ul><li>Salt depletion-warm weather-free access to salt </li></ul><ul><li>Delayed puberty </li></ul>
  28. 29. Pregnancy & Fertility <ul><li>Men-infertile, aspirate sperm-IVF </li></ul><ul><li>Women-sub fertile </li></ul><ul><li>Women-intention to become pregnant-D/W-physician-referral to geneticist + obstetric advice. </li></ul><ul><li>Dietician-prior to pregnancy </li></ul><ul><li>Pregnancy-supervised by CF Team & obstet. </li></ul>
  29. 30. ANTENATAL DIAGNOSIS <ul><li>GENETIC COUNCILLING </li></ul><ul><li>Chorionic biopsy –9 weeks </li></ul><ul><li>Pre-implantation diagnosis </li></ul><ul><li>Antenatal screening </li></ul>
  30. 31. Mange ment [contd] <ul><li>Shared care-local hosp & CF unit </li></ul><ul><li>Annual assessment at the sp. Centre </li></ul><ul><li>Joint clinics at the local hosp </li></ul><ul><li>CF TEAM- doc,physio,nurse sp,diet,SW </li></ul><ul><li>Transfer to adult services </li></ul>
  31. 32. CF annual assessment <ul><li>Examination </li></ul><ul><li>Anthropomorphics </li></ul><ul><li>Lung FT </li></ul><ul><li>Physio </li></ul><ul><li>Dietician </li></ul><ul><li>Sputum </li></ul><ul><li>Chest XRay </li></ul><ul><li>FBC/E&E/LFT/clotting </li></ul><ul><li>ESR </li></ul><ul><li>Hba1c </li></ul><ul><li>Vitamin levels </li></ul><ul><li>Trace elements </li></ul><ul><li>Aspergillus precipitins </li></ul><ul><li>Total IgE </li></ul><ul><li>Immunoglobulins </li></ul><ul><li>Faecal fat/elastase </li></ul>
  32. 33. PROGNOSIS <ul><li>Life limiting disorder </li></ul><ul><li>Mean survival- </li></ul><ul><li>Survival from 20-90%-if picked up early </li></ul><ul><li>Male survival better </li></ul>
  33. 34. FUTURE-gene therapy <ul><li>Transfer of a normal copy of a gene to a cell which has 2 abnormal copies </li></ul><ul><li>Artificial copies available </li></ul><ul><li>Work still on-delivery systems,dose,mode of delivery,frequency of application </li></ul>
  34. 35. Thank you for Watching
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