Week 5 - Cystic Fibrosis in Children and Adults Flashcards
How do you develop CF and how many mutations are there?
autosomal recessive - 2500+
What is the main cause of mortality
lung disease and resp. failure
what is the impairment in CF?
CF gene is impaired and leads to abnormal transport of Na+ and Cl- across membrane. less liquid on airway surfaces so mucus is stickier and thick, collecting lots of bacteria.
How many mutation classes are there and what kind of disease do they cause?
- 1-3 cause severe disease as CF protein isn’t synthesised or functioning. 4-6 cause mild disease as CF protein partially synthesised
How is CF diagnosed before birth?
if parent/sibling has it, they test antenatally. cells removed from embryo, chorionic villous sampling, amniotic fluid.
How is CF diagnosed after birth?
Guthrie test day 5. if positive, sweat test. sweat test measures conc. of chloride excreted in swear - elavated in CF. reliable in infants, less in adults
What are the 4 main systems CF effects?
pancreatic insufficiency, diabetes, lung infection, bronchiectasis
What is pancreatic insufficiency? who gets it?
pancreas produces enzymes that digest food. lack of enzymes means abnormal stool and failure to thrive. classes 1-3 have this, class 4-6 usually dont as you only need 5% CFTR function.
Why does CF cause recurrent bronchopulmonary infection?
abnormal Cl- and Na+ transport causes dehydration of airways, so thick mucus traps bacteria and causes chronic sputum production and recurrent LTI’s. progressive airflow obstruction causes bronchiectasis. can lead to resp. failure
What is the management team of CF?
multi organ disease needs multidisciplinary team. dietician, physio, pharmacist, microbiologist, primary care
How do you treat pancreatic insufficiency?
Creon replacement enzymes - 30-40 a day. Nutritional supplements.
How do you treat respiratory features of CF?
- physiotherapist - mucolytics and
bronchodilators. - antibiotics for chronic infection.
- azithromycin for chronic inflammation.
- supportive treatment for fibrosis/scarring/bronchiectasis
How does diabetes link with CF?
type II commonly seen, due to pancreas and thus insulin issues.
Why do CF patients need high calorific diet?
more energy needed to breathe, fight lung infections and compensate for poor digestion
How does osteoporosis link with CF?
bone mineral density falls - slower gain and faster loss. increase risk of fractures. transplant surgery may be rejected as high dose steroids further thins bones
