A/14 Flashcards
1
Q
What is the cause of cystic fibrosis?
A
CFTR gene mutation
2
Q
What type of genetic inheritance is CF
A
autosomal recessive
3
Q
What does the cftr mutation do?
A
impaired cl- transport which causes issues in the airways and sweat glands
4
Q
What does impaired Cl- transport result in? (2)
A
- build up of thick mucus in the lungs, pancreas
- very high NaCl concentration in sweat
5
Q
Why is gene therapy not used in cf?
A
Because it caused lots of lung cancers
6
Q
Effect of CF on lungs (3)
A
- inflammation
- pseudomonas infection
- bronchiectasis
7
Q
Effect of CF on liver
A
blocked bile canaliculi -> inflammation -> steatosis
->cirrhosis
8
Q
Effect of CF on pancreas
A
- exocrine dysfunction
- pancreatitis
- diabetes
9
Q
Effect of CF on intestines
A
- neonatal obstruction : meconium ileus
- distal obstruction
10
Q
What is the incidence of CF?
A
1/3200
11
Q
Which gene is the CFTR gene?
A
7q31.2
12
Q
How does CF affect the reproductive tract? (3)
A
- azoospermia
- infertility
- absence of vas deferens
