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Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
Cystic Fibrosis
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Cystic Fibrosis

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

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

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  • 1. CYSTIC FIBROSIS Dr S Sen Specialist Registrar North Western Deanery
  • 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. 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. 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. GENETICS
  • 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. DIAGNOSIS <ul><li>NEONATAL SCREENING </li></ul><ul><li>CLINICAL PRESENTATION </li></ul>
  • 8. Neonatal Screening <ul><li>Guthrie card </li></ul><ul><li>Immunoreactive trypsin </li></ul><ul><li>Genotyping </li></ul>
  • 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
  • 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>
  • 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>
  • 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>
  • 15. Physiotherapy <ul><li>Chest Physiotherapy </li></ul><ul><li>Physical activity </li></ul>
  • 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>
  • 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>
  • 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>
  • 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>
  • 20. Bronchodilators <ul><li>50% of CF pts-some degree of bronchial lability </li></ul><ul><li>Before physiotherapy </li></ul>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 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>
  • 35. Thank you for Watching

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