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Cystic Fibrosis

Cystic Fibrosis. By James Gray 2012. Overview. What is CF What organ systems are affected Physiology Living with CF Genetics Prenatal/neonatal diagnosis Support groups. Cystic Fibrosis. Commonest cause of suppurative lung disease in Caucasians. 9000 in UK

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Cystic Fibrosis

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  1. Cystic Fibrosis By James Gray 2012

  2. Overview • What is CF • What organ systems are affected • Physiology • Living with CF • Genetics • Prenatal/neonatal diagnosis • Support groups

  3. Cystic Fibrosis Commonest cause of suppurative lung disease in Caucasians. 9000 in UK Autosomal recessive disease Caucasians carrier rate =1/25 Uncommon in ethnic groups 1/2500 affected births Mutation in gene cystic fibrosis transmembrane regulator (CFTR)

  4. Cystic Fibrosis • Sweat • Digestive fluids • Mucus

  5. Cystic Fibrosis • Mutation in gene on c7 which codes for CFTR • Over 1000 mutations found in this gene • Need 2 mutations • Commonst ∆F508 (78%) • CFTR= Chloride channel blocker

  6. Living with Cystic Fibrosis http://www.youtube.com/watch?v=kCSjfxm1jgY

  7. Genetics • Cc +CC = 2 carriers+ 2 unaffected • Cc+Cc = 1 affected+2carriers+1unaffected • cc+cC = 2 affected+ 2 carriers • cc+CC = 4 carriers

  8. Diagnostics/testing • Newborn screen -day 5 immunoreactive trypsinogen if + • Sweat Test -sweating stimulated by pilocarpine iontophoresis→capillary tube/filter paper • Genetic testing -couples planning pregnancy/pregnant →if high risk test foetus →CVS (1/100) or Amniocentesis (1/200)

  9. Diagnosing/testing-in GPland • Advise the couple yourself • Could refer to obstetrics to give prenatal diagnosis. (Dr Hamilton) • Postnatal Paediatrics (Dr Garside) • Watch family for obvious complications inc psychological impacts on all involved.

  10. Prognosis • In 1960 median survival 6 months • Now nearly 40 yrs!!! • Marrying, having children

  11. Any Support Groups • Cystic fibrosis trust www.cftrust.org.uk • Cystic Fibrosis Screening Programme www.screening.nhs.uk/cysticfibrosis-newborn • Patient.co.cuk www.patient.co.uk/health/Cystic-Fibrosis.htm

  12. Any Questions

  13. Summary • Life limiting chronic illness • But the future looks brighter • Ensure awareness of services available to those with CF, and be sensitive to families involved

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