Cystic Fibrosis Flashcards
1
Q
What causes CF?
A
A mutation in the CFTR gene which helps to control the movement of salt water across the cell membrane.
2
Q
What is CFTR?
A
Cystic Fibrosis transmembrane Conductance Regulator (its a membrane protein)
3
Q
What does CF do to a patient
A
Leads to a build up of mucus within many of the body’s organs.
4
Q
Where on and on which chromosome does the mutation occur?
A
On the long arm of chromosome 7.
5
Q
What are the 4 different categories of CF mutation?
A
- CF causing
- Varying clinical consequences
- Unknown non-clinical consequences
- Non-CF causing.
6
Q
What is the main cause of death for 90% of CF patients?
A
Pulmonary disease in CF
7
Q
What occurs in Pulmonary disease in CF?
A
- Recurrent infections - viral, bacterial and/or fungal.
- Airway obstruction - atelectasis, bronchiectasis, lung damage
and destruction.
8
Q
What are the symptoms for Pulmonary disease in CF?
A
Symptoms: chronic cough, sputum production, wheeze, SOB,
exercise capacity, QOL
