2.11 Cystic Fibrosis Flashcards
On what chromosome is the CFTR gene located?
chromosome 7
What is the most common CF mutation?
delta-F508
How man children have CF and how many are carriers?
1 in 2500 have CF
1 in 25 are carriers
Inheritance pattern for CF?
Autosomal recessive
3 consequences of CF?
thick pancreatic and biliary secretions
low volume thick airway secretions
congenital bilateral absence of vas deferens
Who is screened for CF?
All newborns with the newborn bloodspot test
In early life what might be the first sign of CF?
Meconium ileus - pathognomonic for CF
Failure to pass meconium within 24 hours, abdo distention, vomiting
3 ways CF could present in later childhood?
Recurrent lower resp tract infections
Failure to thrive
Pacreatitis
What is CF poo like?
loose and greasy “steatorrhoea” due to lack of lipase
What is kissing a CF person like?
salty skin
Signs of CF?
- poor performance of growth / weight scales
- nasal polyps
- finger clubbing
- crackles and wheeze on auscultation
- abdo distension
7 causes of clubbing?
- CF
- hereditary
- cyanotic heart disease
- infective endocarditis
- tuberculosis
- IBD
- liver cirrhosis
3 key methods of CF diagnosis?
- newborn blood spot testing
- sweat test is gold standard
- genetic testing for CFTR by amniocentesis or CVS, or blood test after birth
What are 6 common colonisers of CF lungs?
- Staph aureus
- Pseudomonas aeruginosa
- H. influenza
- Klebsiella pneumonia
- E. coli
- Burkhoderia cepacia
What abx do CF take prophylactically and why?
Flucloxacillin to prevent staph aureus colonisation
Which CF coloniser is associated with increased mortality and morbidity?
Pseudomonas aeruginosa
How is Pseudomonas aeruginosa infection treated in CF?
Nebulised Abx such as TOBRAMYCIN
also oral CIPROFLOXACIN
What vaccinations do you give CF patients?
pneumococcal, influenza, varicella
What tablets should CF patients take?
CREON tablets - replaces missing lipase
and prophylactic flucloxacillin
6 thing for CF lungs?
- chest physio
- exercise
- treat chest infections
- bronchodilator eg salbutamol
- nebulised DNAase (Dornase alfa), break downs DNA in secretions to make it less viscous
- nebulised hypertonic saline
What should CF patients include in their diet?
Lots of calories
cos of: malabsorption, increased resp effort, coughing, infections, physio
What can be transplanted in CF?
liver and lung
Median life expectancy for CF?
47 years
What else do you monitor / screen CF patients for?
diabetes, osteoporosis, vit D deficiency, liver failure
How many CF patients need insulin?
50% develop CF-related diabetes and need insulin
