Lecture 7 - CF: Personal Perspectives Flashcards
People from which backgrounds are most affected by CF?
North-European ethnicities
What is the aetiology of CF?
Genetic mutation
Inherited
What is the cure for CF?
No cure at present
Describe the phenotype of CF?
Can be quite variable, even if the mutation is the same.
Think about the differences between Sean and Steven
Which systems are affected in CF?
Respiratory
Digestive
Reproductive
What are the symptoms of CF?
Viscous mucous produced in various cells
What problems does the mucous cause?
- Traps bacteria → infections
- Frequent coughing
- Lung damage
- blockage of intestinal and pancreatic ducts by mucous
What gives rise to the mucous problem?
Ion channel mutation → failure of Cl- movement
Describe the effect of CF on the digestive system
What is this due to?
• ‘Failure to thrive’
• Chronic malabsorption
Due to:
• blockage of intestinal and pancreatic ducts by mucous
What is Meconium ileus?
Intestinal obstruction in newborns
Describe the effect of the mutation on the reproductive system
• Infertility in males
• Sub-fertility in females
Due to:
• blockage of vas deferens → atrophy → bilateral loss of vas deferens
• cervical mucous blocks sperm in females
When was newborn screening for CF introduced?
1989
Describe the inheritance of CF
Autosomal recessive
What is the factor that will kill individuals with CF?
Build up of mucous
Describe Steven’s family history
There was knowledge of childhood mortality several generations back in Switzerland.
The cause of these deaths was not known until Steven’s diagnosis
