Cystic Fibrosis Flashcards
1
Q
How is it inherited?
A
Autosomal recessive.
2
Q
What are the mutations in CF?
A
Mutation in the CFTR gene with the most common mutation being deltaF508.
This results in an abnormal chloride channel being produced.
This results in mucus secretions that are thick and sticky, this then affects numerous body systems.
3
Q
Presentation of CF:
A
Neonate: meconium ileus, failure to thrive.
Children and young adults: Weight loss, clubbed fingers. Cough, sputum, recurrent infections.
- Steatorrhoea, male infertility.
4
Q
Investigations of CF?
A
Genetic screening
Sweat test: chloride >60mmol
