What is the most common life shortening inherited disease in Northern Europeans?
What kind of inheritance does CF show?
What is the gene prevalence of CF?
What is the disease prevalence of CF?
Where does the CF gene lie?
Long arm of chromosome 7
What is the CF gene?
Cystic fibrosis transmembrane conductance regulator (CFTR)
How many known mutations are there of the CF gene?
How many mutations of the CF gene are CF disease associated?
What can different mutations result in?
Different phenotypes of the disease
How many classes of mutations are there?
What is the most common CF gene mutation?
What is the class of mutation 1?
What is the class of mutation 2?
Block in processing
What is the class of mutation 3?
Block in regulation
What is the class of mutation 4?
What is the class of mutation 5?
What is the function of the cystic fibrosis transmembrane regulator (CFTR) gene?
Cilial collapse (regulates lipid volume on epithelial surface by reducing chloride and increasing sodium)
What does a mutation of the CFTR gene cause?
Excessive, innate inflammation
Thick, sticky mucus
What does collapsed cilia cause?
What are the presenting features of CF?
Recurrent chest infection
Failure to thrive in children
Nasal polyps and sinusitis
What neonatal screening is done for CF?
New-born bloodspot day 5 (Guthrie test)
What is the test called for screening CF?
What happens if the Guthrie test is positive?
Refered for clinical assessment and sweat test
What is required to make the diagnosis of CF?
Repeat CF mutation analysis
What are the possible diagnostic outcomes?
CF screen postive inconclusive diagnosis
Why could a screen positive still be an inconclusive diagnosis?
Dependant on sweat test (normal)
What is done following the identification of a CF patient who is going to become a parent?
What antenatal screening is done for CF?
Pre-implantation genetic diagnosis
Chorionic villus sampling
What does the management of CF involve?
Specialist multi-disciplinary team
Share care with local clinics
What role does primary care have for CF?
Early treatment of infection