Cystic Fibrosis Flashcards
What is Cystic fibrosis
A hereditary disease that affects the lungs and digestive system. The body produces thick and sticky mucous that can clog the lungs and obstruct the pancreas.
What is the life expectancy of someone with cystic fibrosis
They have shorter life spans. Average life expectancy in UK is 37.5
What do people with cystic fibrosis typically die from
Respiratory failure (90%)
What causes cystic fibrosis
Genetics (hereditary disease)
What proportion of people are carriers of cystic fibrosis
1 in 25
Is cystic fibrosis a recessive or dominant autosomal disorder?
Autosomal recessive disorder
What gene mutation is responsible for cystic fibrosis
Mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR)
What chromosome is the cystic fibrosis transmembrane conductance regulator gene (CFTR) located
Chromosome 7
What effect does the mutation of cystic fibrosis transmembrane conductance regulator gene (CFTR) have on chloride and sodium
Reduced chloride secretion from epithelium
Reduced sodium absorption from the lumen
What direct effects does the CFTR mutation have on the airways?
Dehydrates Mucous making it thick and sticky which can cause shearing
How does the CFTR mutation effect neutrophils
Can get impaired bacterial killing via neutrophils as neutrophils need chloride (reduced secretion)
How many mutations of CFTR cause cystic fibrosis
6
What is the most common mutation called and how does it cause damage
Delta F508 (87%) - Causes a block in processing of protein
What bacteria are commonly found in children with Cystic Fibrosis
Staph Aureus
Haemophilius influenza
What bacteria can be found in adults with cystic fibrosis
Pseudomonas Aeroginosa
Why is Pseudomonas Aeroginosa bad and what should be done if it is found
It reduces life expectancy and need to try and eradicate if it is found
When do you test for cystic fibrosis (x3)
Prenatal
Neonatal
Post Natal
What are the Pre natal tests for Cystic fibrosis
Chorionic Villous sampling (amniocentesis)
Testing placental sample
What are the Neonatal tests for Cystic Fibrosis
New born blood spot on day 5 (Guthrie test)
What does Guthrie test detect
It detects raised serum immunoreactive trypsinogen .
What do you do if a Guthrie test result is positive
Refer for clinical assessment and sweat test
What is the post natal test for Cystic Fibrosis
Sweat test
What does the sweat test measure
Measures the concentration of chloride.
The concentration of chloride is elevated in cystic fibrosis
What concentration of Chlorine from a sweat test suggests a high chance of having Cystic fibrosis
> 60 mmoles/L
What systems can Cystic fibrosis impact?
All of them
What are the two major features of Cystic Fibrosis
Pancreatic insufficiency
Infection and Bronchiectasis
What does Pancreatic insufficiency cause?
Abnormal Stools (smelly, pale/orange)
Failure to thrive
Deficiencies in fat soluble vitamins
Diabetes
What classes of Cystic fibrosis are completely pancreatic insufficient
1-3
What classes of Cystic fibrosis are partly pancreatic insufficient
4-6
Why are people with cystic fibrosis more susceptible to infection/bronchiectasis
Less mucociliary clearance
Increased bacterial adherence
Decreased endocytosis on bacteria
How do you treat pancreatic insufficiency
Enteric coated enzyme pellets
High energy diet
Fat soluble vitamin and mineral supplements
How to do treat the respiratory failure associated with cystic fibrosis
Clear mucous obstruction via, Physio, mucolytics and bronchodilators
Fight infection with antibiotics
Reduce inflammation with Azithromycin
Is treatment of diabetes different between someone with cystic fibrosis and someone without?
Yes - The CF diabetic patients can not be put on a low fat/high fibre diet
Why do people with cystic fibrosis get osteoporosis
Malnutrition
Steroid use
Vit D and K deficiency
How do you predict if someone with cystic fibrosis has osteoporosis
FEV1 Age Vit D if they have diabetes If they are frequently on steroids or antibiotics
What is the treatment for osteoporosis in CF patients
Bone protection medication
Weight bearing exercise
