Cystic Fibrosis Flashcards
1
Q
What is cystic fibrosis?
A
Genetic condition with thickened mucus secretions
2
Q
What is the inheritance pattern of cystic fibrosis?
A
Autosomal recessive
3
Q
What is the pathophysiology of cystic fibrosis?
A
Chromosome 7 defect
CFTR mutation
Ineffective cell surface chloride transport
Thickened fluids
4
Q
What does CFTR stand for?
A
Cystic fibrosis transmembrane conductance regulator
5
Q
How is a cystic fibrosis diagnosis made?
A
One or more phenotypic feature
Or history of CF in sibling
Or positive newborn screening test result
AND
increased sweat chloride concentration
6
Q
How does cystic fibrosis present in an infant?
A
Meconium ileus - obstruction caused by meconium
Intestinal malabsorption
Chest infections
New born screening
7
Q
What are complications of cystic fibrosis?
A
Bronchiectasis Pneumothorax Resp failure Pancreatic insufficiency Chronic liver disease Male infertility
