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 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

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
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.

8. Living with Cystic Fibrosis
Family, individual, carers

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)
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]

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
Patient.co.cuk

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