Cystic Fibrosis Flashcards
1
Q
What is the most common mutation causing CF?
A
F508del
2
Q
What causes CF?
A
Defects in the CFTR (cystic fibrosis transmembrane regulator)
3
Q
What are the consequences of CF?
A
Bronchiectasis – Cystic and saccular Tenacious sputum Biliary obstruction, and obstructive hepatitis Pancreatic dysfunction – Endocrine – CFRDM – Exocrine - steatorrhoea Infertility for males Psychological issues for all
4
Q
When would you investigate a case for CF?
A
Bronchiectasis under 40 Upper lobe bronchiectasis Colonisation with Staph Infertility Low weight
5
Q
How do you manage CF?
A
Antibiotics •Staph Aureus Colonised –Oral Fluclox –Oral Septrin •Pseudomonas Colonised –Oral Azithromycin –Nebulised Colomycin –Nebulised Tobramycin
6
Q
What drug do you take for the F508del mutation?
A
Lumacaftor drug
7
Q
Describe the G551D gene?
A
The Celtic Gene Type III Mutation Normal CFTR Delivered to the epithelium normally Non-functioning channel
