CYSTIC FIBROSIS Flashcards
WHAT IS THE PATHOPHYSIOLOGY OF CYSTIC FIBROSIS?
- autosomal recessive disorder leading to mutation in cystic fibrosis transmembrane conductor regulator (CFTR, chloride ion channel present in cells lining lungs, intestines and reproductive organs), causing thickened secretions.
WHAT ARE THE SYMPTOMS OF CYSTIC FIBROSIS IN NEONATES?
- failure to thrive
- meconium ileus (meconium thicker and stickier than usual leading to bowel obstruction) causing intestinal obstruction, bilious vomiting and abdominal distension
WHAT ARE THE SYMPTOMS OF CYSTIC FIBROSIS IN CHILDREN AND YOUNG ADULTS?
- respiratory - cough, wheeze, repeated LRTI, bronchiectasis, SOB
- GI - pancreatic insufficiency (diabetes), cirrhosis (jaundice)
- male infertility
- steatorrhoea
HOW IS CYSTIC FIBROSIS DIAGNOSED?
1) Heel prick test
2) Sweat test - sodium/choloride > 60mmol/L
3) Genetics - screen for known common CF mutation, family history (sibling with
WHAT TESTS ARE CARRIED OUT FOR CYSTIC FIBROSIS?
1) Blood tests - FBC, LFT, U+E’s, clotting factors, vit A,D,E,K
2) Radiology - CXR (bronchiectasis)
3) Abdominal USS - fatty liver, cirrhosis
WHAT IS THE MANAGMENT FOR CYSTIC FIBROSIS?
SYMPTOMATIC CONTROL
1) Respiratory - regular physiotherapy, postural drainage, antibiotics for infective exacerbations, prophylactic antibiotics to maintain health, mucolytics, bronchodilators
2) GI - pancreatic enzyme replacement, fat soluble vitamin supplements (A,D,E,K), diabetes
3) Fertility counselling
WHAT LIFESTYLE ADVICE IS GIVEN FOR PEOPLE WITH CYSTIC FIBROSIS?
1) no smoking
2) avoid other CF patients
3) avoid close friends/ family with colds
4) clean and dry nebulisers regularly
5) flu vaccine
6) Exercise
WHAT ARE THE COMPLICATIONS OF CYSTIC FIBROSIS?
1) LRTI
2) Low body weight - consequence of pancreatic insufficiency
3) Distal intestinal obstruction syndrome
