Cystic Fibrosis Flashcards
What is cystic fibrosis?
Autosomal recessive genetic condition affecting mucus glands
What channels are affected in cystic fibrosis?
CFTR on chromosome 7
What is the mode of inheritance of cystic fibrosis?
Autosomal recessive
What pathogens commongly cause respiratory infections in cystic fibrosis?
Pseudomonas aeroginosa
Haemophilus Influenza
Staph aureus
What pathogen is the most common cause of respiratory infection in cystic fibrosis?
Pseudomonas aeroginosa
Describe the presentation of CF
Malnourished/failure to thrive
Hyperinflated chest
Clubbing
Crackles and wheeze on auscultation
Steatorrhea
Chronic cough with thick sputum production
Nasal polyps
Abdominal extension
Meconium Ileus
Infertility
Recurrent respiratory infections
Salty kisses
Why does steatorrhoea occur in CF
Secretions block pancreatic duct so enzymes are unable to get to GI tract to break down fats
What is meconim ileus?
Inability to pass first stool due to it being thick and sticky, causing it to get stuck and obstruct the bowel
First sign of CF
Why does CF cause infertility?
Absence of vas-deferens
How is CF diagnosed?
Screened at birth with newborn blood spot test/heel prick
- Raised immunoreactive trypsinogen (IRT)
Sweat test
Genetic testing for CFTR gene carried out via CVS during pregnancy
How is CF managed?
Chest physiotherapy and postural drainage twice daily
High calorie and high fat diet
Enzyme supplementation for every meal with CREON tablets
Longterm antibiotics for infection
Bronchodilators, such as salbutamol
Nebulised DNase, to breakdown secretions
Pneumococcal, influenza and varicella vaccination
Heart-lung transplantation
Name some complications of CF
Rectal prolapse
Gallstones
Pneumothorax
Bronchiectasis
What is the gold standard for CF diagnosis?
Sweat test, in which sample of sweat is tested for chloride concentration
What is the diagnostic chloride concentration for CF?
more than 60mmol/l
What prophylactic antibiotic is given in CF?
Flucloxacillin for staph aureus infection
