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
    • DEFINITION
    • PATHOGENESIS/GENETICS
    • DIAGNOSIS/PRESENTATION
    • GENERAL MANGEMENT
    • MANAGEMENT OF COMPLICATIONS
    • OTHER ISSUES
    • PROGNOSIS
  • 3. DEFINITION
    • Inherited multisystem disorder of children and adults characterized chiefly by chronic obstruction and infection of airways and by maldigestion and its consequences
  • 4. Pathogenesis
    • CFTR-Abnormal function
    • Abnormalities of C-amp mediated Cl conductance
    • CF cells-limited ability to secrete Cl, absorb Na in excess
    • Water follows Na- secretions more viscid
    • Thick secretions block the lumen
  • 5. GENETICS
  • 6. GENETICS[contd]
    • 70% delta F 508
    • Autosomal recessive
    • UK-1 in 25-carrier
    • Incidence-1 in 2500
  • 7. DIAGNOSIS
    • NEONATAL SCREENING
    • CLINICAL PRESENTATION
  • 8. Neonatal Screening
    • Guthrie card
    • Immunoreactive trypsin
    • Genotyping
  • 9. Clinical presentation
    • Meconium ileus
    • Chest infections
    • Intestinal malabsorption
    • Poor growth
    • Asthma
    • Family history
    • Nasal polyps
    • Rectal prolapse
    • Salt loss
    • Conductive hearing loss
    • Sinusitis
  • 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
    • Communication
    • Home visit-CF nurse specialist
    • Introduction to the CF team
    • CF support groups
  • 13. Management- general precautions
    • Immunization
    • Smoking-personal/second hand
    • Precautions against viral infections
    • Crèche,exposure to inf persons
    • Avoidance of stables
    • Acyclovir to treat chicken pox
  • 14. Management-CHEST
    • Physiotherapy
    • Antibiotics
    • Bronchodilators
    • Mucolytics
    • Anti inflammatory
  • 15. Physiotherapy
    • Chest Physiotherapy
    • Physical activity
  • 16. Antibiotics
    • Improved outlook
    • Prophylactic antibiotics-fluclox
    • Viral URTI-H influ,S pneu
    • IV antibiotics if symptoms continue
    • Regular use of IV antibiotics
  • 17. Pulmonary exacerbations
    • Cough
    • Lethargy
    • Loss of appetite
    • Change in colour of sputum
    • Reduction in PEFR/FEV1
    • +/- Auscultatory findings/chest X-ray changes
  • 18. IV Antibiotics
    • Choice of antibiotics
    • Dose
    • Duration
    • Home treatment
    • Venous access devices
  • 19. Pseudomonas Aeruginosa
    • Colonization
    • Ciprofloxacin
    • Colomycin-neb
    • Tobramycin nebulised
    • IV antibiotics
  • 20. Bronchodilators
    • 50% of CF pts-some degree of bronchial lability
    • Before physiotherapy
  • 21. Anti inflammatory
    • Steroids-Inhaled,oral
    • Oral steroids and DM
    • Other anti-inflammatory drugs
  • 22. Reducing sputum viscosity
    • Saline
    • N-acetyl cysteine-mucolytic
    • Recombinant DNase
    • Amiloride
    • Others
  • 23. Complications-chest
    • Atelectasis-IV ABX, PT
    • Hemoptysis-if large VITK, blood, broch.art embolisation
    • Pneumothorax-conservative,pleurodesis
    • Allergic aspergillosis-corticosteroids, refractory cases-antifungals
    • Resp Failure-acute & chronic
    • Right sided heart failure
  • 24. GI & Nutrition-management
    • Pancreatic enzyme supplements
    • Vitamins
    • Dietary supplements
    • Regular dietetic review
    • Monitor plasma levels+ PT
    • Constipation-lactulose/senna
  • 25. GI Complications
    • Meconium ileus-gastrograffin,surgery
    • DIOOS/MIE-Klean prep,gastrograffin,review of enzymes,antacids or H2 antagonists
  • 26. Complications[contd]
    • Diabetes Mellitus
    • 30% at 25 yrs
    • Oral steroids
    • >12 yrs- annual GTT
    • Oral hypoglycaemic agents
    • Insulin
    • Liver Disease
    • 20%-minor abnormalities of LFT
    • 5%-liver disease
    • Ursodeoxycholic acid
    • Oesophageal varices-sclerosing injections
    • Liver transplant
    • Annual LFT
  • 27. Psychosocial problems
    • Patient & Family
    • Esp critical times
    • Counseling.emotional support,advice on benefits
    • Liason with other agencies
    • Adolescence-independence,noncompliance
    • Psychosocial report for transplant
  • 28. Other problems
    • Nasal polyps-local steroids,surgery
    • Salt depletion-warm weather-free access to salt
    • Delayed puberty
  • 29. Pregnancy & Fertility
    • Men-infertile, aspirate sperm-IVF
    • Women-sub fertile
    • Women-intention to become pregnant-D/W-physician-referral to geneticist + obstetric advice.
    • Dietician-prior to pregnancy
    • Pregnancy-supervised by CF Team & obstet.
  • 30. ANTENATAL DIAGNOSIS
    • GENETIC COUNCILLING
    • Chorionic biopsy –9 weeks
    • Pre-implantation diagnosis
    • Antenatal screening
  • 31. Mange ment [contd]
    • Shared care-local hosp & CF unit
    • Annual assessment at the sp. Centre
    • Joint clinics at the local hosp
    • CF TEAM- doc,physio,nurse sp,diet,SW
    • Transfer to adult services
  • 32. CF annual assessment
    • Examination
    • Anthropomorphics
    • Lung FT
    • Physio
    • Dietician
    • Sputum
    • Chest XRay
    • FBC/E&E/LFT/clotting
    • ESR
    • Hba1c
    • Vitamin levels
    • Trace elements
    • Aspergillus precipitins
    • Total IgE
    • Immunoglobulins
    • Faecal fat/elastase
  • 33. PROGNOSIS
    • Life limiting disorder
    • Mean survival-
    • Survival from 20-90%-if picked up early
    • Male survival better
  • 34. FUTURE-gene therapy
    • Transfer of a normal copy of a gene to a cell which has 2 abnormal copies
    • Artificial copies available
    • Work still on-delivery systems,dose,mode of delivery,frequency of application
  • 35. Thank you for Watching