Cystic Fibrosis Flashcards
1
Q
What is cystic fibrosis?
A
Inherited autosomal recessive disease
Gene mutation - chromosome 7
Responsible for CFTR (transmembrane) protein involved in ion transport of chloride ions
Affects level of sodium and water inbetween membranes
Ducts become thick in mucus
2
Q
What is the pathology of cystic fibrosis?
A
Respiratory disease High sodium sweat Pancreatic insufficiency Biliary disease Infertility Cirrhosis of the liver Gastrointestinal disease
3
Q
How is cystic fibrosis diagnosed?
A
Genetic Testing - mouth swab or blood test
Heel prick test
Sweat test
4
Q
What are the main symptoms of cystic fibrosis
A
Birth -10% serious bowel obstruction, meconium is thick so unable to pass out, jaundice - yellowing of the eyes Persistent and coughing fits Inflamation Chest infections recurrent Cross infection Impaired diaphragm - large liver Large smelly stools Malnutrition
5
Q
How is Cystic Fibrosis managed?
A
Medication - bronchodilators, antibiotics, steroids, digestive enzymes, vaccines etc
Diet
Education
Exercise
Physio - shifting with mucus, dealing with symproms
Lung transplant
Psychological support
