Cystic fibrosis
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This document provides an overview of cystic fibrosis, including that it is a genetic disorder affecting the lungs and digestive system, most commonly caused by a mutation on chromosome 7. It also discusses diagnostics and testing methods, treatment challenges in living with the condition, and support resources available.
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Cystic fibrosis
- 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 1. Sweat 2. Digestive fluids 3. Mucus
- 7. 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
- 8. Living with Cystic Fibrosis http://www.youtube.com/ watch?v=kCSjfxm1jgY
- 9. Genetics Cc +CC = 2 carriers+ 2 unaffected Cc+Cc = 1 affected+2carriers+ 1unaffected cc+cC = 2 affected+ 2 carriers cc+CC = 4 carriers
- 10. 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)
- 11. 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.
- 12. Prognosis In 1960 median survival 6 months Now nearly 40 yrs!!! Marrying, having children
- 13. 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/CysticFibrosis.htm
- 14. Any Questions
- 15. 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
Editor's Notes
- IN CF the abnormal ion transport across the epithelial cells of the exocrine glands of the respiratory tract and pancreas results in increased viscosity of secretions. Abnormal function of the sweat glands results in excessive concentrations of sodium and chloride in the sweat. This forms the basis of the sweat test.
- Family, individual, carers
- IRT can be high if carrier, ad if normal alleles therefore screening is controversial have done here since 2002 though Can be offered to everyone, but The American College of Obstetricians and Gynecologists (ACOG) recommends testing for couples who have a personal or close family history of CF, and they recommend that carrier testing be offered to all Caucasian couples and be made available to couples of other ethnic backgrounds. Because development of CF in the fetus requires each parent to pass on a mutated copy of the CFTR gene and because CF testing is expensive, testing is often performed initially on one parent. If testing shows that parent is a CFTR gene mutation carrier, the other parent is tested to calculate the risk that their children will have CF. CF can result from more than a thousand different mutations, and as of 2006 it is not possible to test for each one. Testing analyzes the blood for the most common mutations such as ΔF508—most commercially available tests look for 32 or fewer different mutations. If a family has a known uncommon mutation, specific screening for that mutation can be performed. Because not all known mutations are found on current tests, a negative screen does not guarantee that a child will not have CF.[61]