Cystic Fibrosis Flashcards
1
Q
What is the gene affected?
A
Cystic fibrosis transmembrane conductance regulator
2
Q
What does CFTR do?
A
Provides an active transport channel for chloride
3
Q
How does this lead to infection?
A
Cilia collapse, causing mucous build up and then an infection
4
Q
What are the antenatal clinical features?
A
CVS
Echogenic bowel
5
Q
What are the neonatal clinical features?
A
Mec ileus
6
Q
What are the infant and child clinical features?
A
Recurrent chest infections
Failure to thrive
7
Q
What are the older children and adults clinical features?
A
Recurrent chest infections
Nasal polyps and sinusitus
Male infertility
8
Q
What is involved in the diagnosis?
A
Family history of CF
High sweat sodium concentration
Blood DNA analysis
Radiology
9
Q
What are the treatments?
A
Involves a multi-disciplinary team Oxygen therapy Antibiotic treatment for infection Airway clearance Non invasive ventilation Treatment for malnutrition Transplantation - double lung
