Cystic fibrosis

Question 1

Definition of CF

Answer 1

• inherited autosomal recessive diseases
• single gene defect: Chromosome 7
• Chromosome 7 is responsible for the CF transmembrane regulator protein
• a defect in this protein means that there is a disruption to the ion transportation eg sodium and chloride in cells
• it affects multiple organs with ducts becoming blocked by mucus and inflammation and remodelling leading to scarring tissue build-up.

Question 2

Areas CFTR affect (7)

Answer 2

• respiratory
• High sodium sweat
• pancreatic insufficiency
• biliary disease
• infertility
• corrosive to the liver
• gastrointestinal disease

Question 3

Symptoms of CF

Answer 3

• persistent cough
• inflammation of the lungs
• cross infection
• large smelly poos
• malnutrition
• Kyphosis of the spine = neck and back pain
• diabetes
• nasal polyps
• arthritis
• osteoarthritis
• infertility
• liver failure
• urinary incontinence due to coughing
• delayed puberty

Question 4

Statistics of having CF

Answer 4

both parents have to be carriers
1-2 carrier
1-4 having CF
1-4 not having and not being a carrier

Question 5

Diagnostic teats

Answer 5

• sweat test
• heel prick test
• genetic testing